Canonical Allele Identifier: CA2490294

Gene: MITF

Linked Data

• ClinVar Variation Id: 228855
• ClinVar RCV Id: RCV000215399 ; RCV003390961
• dbSNP Id: rs190215588
• ExAC: 3:69928509 C / T
• gnomAD v2: 3-69928509-C-T
• gnomAD v3: 3-69879358-C-T
• gnomAD v4: 3-69879358-C-T
• MyVariant Identifiers: chr3:g.69928509C>T (hg19) ; chr3:g.69879358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69879358C>T , CM000665.2:g.69879358C>T	GRCh38
NC_000003.11:g.69928509C>T , CM000665.1:g.69928509C>T	GRCh37
NC_000003.10:g.70011199C>T	NCBI36
NG_011631.1:g.144877C>T , LRG_776:g.144877C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.281C>T	ENSP00000324443.5:p.Thr94Met
ENST00000687384.1:c.278C>T	ENSP00000510225.1:p.Thr93Met
ENST00000689390.1:n.503C>T
ENST00000693031.1:c.329C>T	ENSP00000509845.1:p.Thr110Met
ENST00000693549.1:c.281C>T	ENSP00000509358.1:p.Thr94Met
ENST00000314589.10:c.281C>T	ENSP00000324443.5:p.Thr94Met
ENST00000352241.9:c.329C>T MANE Select	ENSP00000295600.8:p.Thr110Met
ENST00000448226.9:c.326C>T	ENSP00000391803.3:p.Thr109Met
ENST00000642352.1:c.329C>T	ENSP00000494105.1:p.Thr110Met
ENST00000314589.9:c.281C>T	ENSP00000324443.5:p.Thr94Met
ENST00000328528.10:c.326C>T	ENSP00000327867.6:p.Thr109Met
ENST00000352241.8:c.329C>T	ENSP00000295600.7:p.Thr110Met
ENST00000429090.5:c.173C>T	ENSP00000407620.1:p.Thr58Met
ENST00000433517.5:c.173C>T	ENSP00000411389.1:p.Thr58Met
ENST00000448226.6:c.329C>T	ENSP00000391803.2:p.Thr110Met
ENST00000451708.5:c.281C>T	ENSP00000398639.1:p.Thr94Met
ENST00000457080.5:c.326C>T	ENSP00000391276.1:p.Thr109Met
ENST00000472437.5:c.173C>T	ENSP00000418845.1:p.Thr58Met
NM_001184967.1:c.173C>T	NP_001171896.1:p.Thr58Met
NM_006722.2:c.326C>T	NP_006713.1:p.Thr109Met
NM_198159.2:c.329C>T	NP_937802.1:p.Thr110Met
NM_198177.2:c.281C>T	NP_937820.1:p.Thr94Met
XM_005264754.1:c.329C>T	XP_005264811.1:p.Thr110Met
XM_005264755.2:c.281C>T	XP_005264812.1:p.Thr94Met
XM_006713164.2:c.173C>T	XP_006713227.1:p.Thr58Met
XM_011533722.1:c.326C>T	XP_011532024.1:p.Thr109Met
XM_011533723.1:c.278C>T	XP_011532025.1:p.Thr93Met
XM_011533724.1:c.173C>T	XP_011532026.1:p.Thr58Met
XM_011533725.1:c.329C>T	XP_011532027.1:p.Thr110Met
XM_011533726.1:c.329C>T	XP_011532028.1:p.Thr110Met
NM_001354604.1:c.329C>T	NP_001341533.1:p.Thr110Met
NM_001354605.1:c.326C>T	NP_001341534.1:p.Thr109Met
NM_001354606.1:c.326C>T	NP_001341535.1:p.Thr109Met
NM_001354607.1:c.278C>T	NP_001341536.1:p.Thr93Met
NM_001354608.1:c.173C>T	NP_001341537.1:p.Thr58Met
NM_001184967.2:c.173C>T	NP_001171896.1:p.Thr58Met
NM_001354604.2:c.329C>T MANE Select	NP_001341533.1:p.Thr110Met
NM_001354605.2:c.326C>T	NP_001341534.1:p.Thr109Met
NM_001354606.2:c.326C>T	NP_001341535.1:p.Thr109Met
NM_001354607.2:c.278C>T	NP_001341536.1:p.Thr93Met
NM_001354608.2:c.173C>T	NP_001341537.1:p.Thr58Met
NM_198159.3:c.329C>T	NP_937802.1:p.Thr110Met
NM_198177.3:c.281C>T	NP_937820.1:p.Thr94Met
NM_006722.3:c.326C>T	NP_006713.1:p.Thr109Met