Canonical Allele Identifier: CA123834

Gene: MITF

Linked Data

• ClinVar Variation Id: 14276
• ClinVar RCV Id: RCV000015346 ; RCV000414854 ; RCV000415265 ; RCV001200166 ; RCV001813988
• dbSNP Id: rs104893746
• gnomAD v4: 3-69956460-C-T
• COSMIC: COSM5469214 ; COSM5469215 ; COSM5469216 ; COSM5469217
• MyVariant Identifiers: chr3:g.70005611C>T (hg19) ; chr3:g.69956460C>T (hg38)
• PubMed: PMID:8659547 ; PMID:9856573

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956460C>T , CM000665.2:g.69956460C>T	GRCh38
NC_000003.11:g.70005611C>T , CM000665.1:g.70005611C>T	GRCh37
NC_000003.10:g.70088301C>T	NCBI36
NG_011631.1:g.221979C>T , LRG_776:g.221979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.895C>T	ENSP00000324443.5:p.Arg299Ter
ENST00000687384.1:c.892C>T	ENSP00000510225.1:p.Arg298Ter
ENST00000689390.1:n.1117C>T
ENST00000693031.1:c.868C>T	ENSP00000509845.1:p.Arg290Ter
ENST00000693549.1:c.895C>T	ENSP00000509358.1:p.Arg299Ter
ENST00000314589.10:c.895C>T	ENSP00000324443.5:p.Arg299Ter
ENST00000352241.9:c.961C>T MANE Select	ENSP00000295600.8:p.Arg321Ter
ENST00000394351.9:c.640C>T MANE Plus Clinical	ENSP00000377880.3:p.Arg214Ter
ENST00000448226.9:c.940C>T	ENSP00000391803.3:p.Arg314Ter
ENST00000642352.1:c.943C>T	ENSP00000494105.1:p.Arg315Ter
ENST00000314557.10:c.622C>T	ENSP00000324246.6:p.Arg208Ter
ENST00000314589.9:c.895C>T	ENSP00000324443.5:p.Arg299Ter
ENST00000328528.10:c.940C>T	ENSP00000327867.6:p.Arg314Ter
ENST00000352241.8:c.943C>T	ENSP00000295600.7:p.Arg315Ter
ENST00000394351.7:c.640C>T	ENSP00000377880.3:p.Arg214Ter
ENST00000448226.6:c.961C>T	ENSP00000391803.2:p.Arg321Ter
ENST00000451708.5:c.913C>T	ENSP00000398639.1:p.Arg305Ter
ENST00000472437.5:c.787C>T	ENSP00000418845.1:p.Arg263Ter
ENST00000478490.5:c.*287C>T	ENSP00000433487.1:n.*287C>T
ENST00000531774.1:c.454C>T	ENSP00000435909.1:p.Arg152Ter
NM_000248.3:c.640C>T , LRG_776t1:c.640C>T	NP_000239.1:p.Arg214Ter
NM_001184967.1:c.787C>T	NP_001171896.1:p.Arg263Ter
NM_006722.2:c.940C>T	NP_006713.1:p.Arg314Ter
NM_198158.2:c.622C>T	NP_937801.1:p.Arg208Ter
NM_198159.2:c.943C>T	NP_937802.1:p.Arg315Ter
NM_198177.2:c.895C>T	NP_937820.1:p.Arg299Ter
NM_198178.2:c.454C>T	NP_937821.2:p.Arg152Ter
XM_005264754.1:c.961C>T	XP_005264811.1:p.Arg321Ter
XM_005264755.2:c.913C>T	XP_005264812.1:p.Arg305Ter
XM_006713164.2:c.805C>T	XP_006713227.1:p.Arg269Ter
XM_011533722.1:c.958C>T	XP_011532024.1:p.Arg320Ter
XM_011533723.1:c.910C>T	XP_011532025.1:p.Arg304Ter
XM_011533724.1:c.805C>T	XP_011532026.1:p.Arg269Ter
XM_011533725.1:c.793C>T	XP_011532027.1:p.Arg265Ter
XM_011533726.1:c.775C>T	XP_011532028.1:p.Arg259Ter
NM_001354604.1:c.961C>T	NP_001341533.1:p.Arg321Ter
NM_001354605.1:c.958C>T	NP_001341534.1:p.Arg320Ter
NM_001354606.1:c.940C>T	NP_001341535.1:p.Arg314Ter
NM_001354607.1:c.892C>T	NP_001341536.1:p.Arg298Ter
NM_001354608.1:c.787C>T	NP_001341537.1:p.Arg263Ter
NM_001184967.2:c.787C>T	NP_001171896.1:p.Arg263Ter
NM_001354604.2:c.961C>T MANE Select	NP_001341533.1:p.Arg321Ter
NM_001354605.2:c.958C>T	NP_001341534.1:p.Arg320Ter
NM_001354606.2:c.940C>T	NP_001341535.1:p.Arg314Ter
NM_001354607.2:c.892C>T	NP_001341536.1:p.Arg298Ter
NM_001354608.2:c.787C>T	NP_001341537.1:p.Arg263Ter
NM_198158.3:c.622C>T	NP_937801.1:p.Arg208Ter
NM_198159.3:c.943C>T	NP_937802.1:p.Arg315Ter
NM_198177.3:c.895C>T	NP_937820.1:p.Arg299Ter
NM_198178.3:c.454C>T	NP_937821.2:p.Arg152Ter
NM_000248.4:c.640C>T MANE Plus Clinical	NP_000239.1:p.Arg214Ter
NM_006722.3:c.940C>T	NP_006713.1:p.Arg314Ter