Canonical Allele Identifier: CA2490479

Gene: MITF

Linked Data

• ClinVar Variation Id: 1971795
• ClinVar RCV Id: RCV002741009
• dbSNP Id: rs768418058
• ExAC: 3:69998254 C / T
• gnomAD v2: 3-69998254-C-T
• gnomAD v4: 3-69949103-C-T
• MyVariant Identifiers: chr3:g.69998254C>T (hg19) ; chr3:g.69949103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69949103C>T , CM000665.2:g.69949103C>T	GRCh38
NC_000003.11:g.69998254C>T , CM000665.1:g.69998254C>T	GRCh37
NC_000003.10:g.70080944C>T	NCBI36
NG_011631.1:g.214622C>T , LRG_776:g.214622C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.767C>T	ENSP00000324443.5:p.Pro256Leu
ENST00000687384.1:c.764C>T	ENSP00000510225.1:p.Pro255Leu
ENST00000689390.1:n.989C>T
ENST00000693031.1:c.740C>T	ENSP00000509845.1:p.Pro247Leu
ENST00000693549.1:c.767C>T	ENSP00000509358.1:p.Pro256Leu
ENST00000314589.10:c.767C>T	ENSP00000324443.5:p.Pro256Leu
ENST00000352241.9:c.815C>T MANE Select	ENSP00000295600.8:p.Pro272Leu
ENST00000394351.9:c.494C>T MANE Plus Clinical	ENSP00000377880.3:p.Pro165Leu
ENST00000448226.9:c.812C>T	ENSP00000391803.3:p.Pro271Leu
ENST00000642352.1:c.815C>T	ENSP00000494105.1:p.Pro272Leu
ENST00000314557.10:c.494C>T	ENSP00000324246.6:p.Pro165Leu
ENST00000314589.9:c.767C>T	ENSP00000324443.5:p.Pro256Leu
ENST00000328528.10:c.812C>T	ENSP00000327867.6:p.Pro271Leu
ENST00000352241.8:c.815C>T	ENSP00000295600.7:p.Pro272Leu
ENST00000394351.7:c.494C>T	ENSP00000377880.3:p.Pro165Leu
ENST00000448226.6:c.815C>T	ENSP00000391803.2:p.Pro272Leu
ENST00000451708.5:c.767C>T	ENSP00000398639.1:p.Pro256Leu
ENST00000472437.5:c.659C>T	ENSP00000418845.1:p.Pro220Leu
ENST00000478490.5:c.*141C>T	ENSP00000433487.1:n.*141C>T
ENST00000531774.1:c.326C>T	ENSP00000435909.1:p.Pro109Leu
NM_000248.3:c.494C>T , LRG_776t1:c.494C>T	NP_000239.1:p.Pro165Leu
NM_001184967.1:c.659C>T	NP_001171896.1:p.Pro220Leu
NM_006722.2:c.812C>T	NP_006713.1:p.Pro271Leu
NM_198158.2:c.494C>T	NP_937801.1:p.Pro165Leu
NM_198159.2:c.815C>T	NP_937802.1:p.Pro272Leu
NM_198177.2:c.767C>T	NP_937820.1:p.Pro256Leu
NM_198178.2:c.326C>T	NP_937821.2:p.Pro109Leu
XM_005264754.1:c.815C>T	XP_005264811.1:p.Pro272Leu
XM_005264755.2:c.767C>T	XP_005264812.1:p.Pro256Leu
XM_006713164.2:c.659C>T	XP_006713227.1:p.Pro220Leu
XM_011533722.1:c.812C>T	XP_011532024.1:p.Pro271Leu
XM_011533723.1:c.764C>T	XP_011532025.1:p.Pro255Leu
XM_011533724.1:c.659C>T	XP_011532026.1:p.Pro220Leu
XM_011533725.1:c.647C>T	XP_011532027.1:p.Pro216Leu
XM_011533726.1:c.647C>T	XP_011532028.1:p.Pro216Leu
NM_001354604.1:c.815C>T	NP_001341533.1:p.Pro272Leu
NM_001354605.1:c.812C>T	NP_001341534.1:p.Pro271Leu
NM_001354606.1:c.812C>T	NP_001341535.1:p.Pro271Leu
NM_001354607.1:c.764C>T	NP_001341536.1:p.Pro255Leu
NM_001354608.1:c.659C>T	NP_001341537.1:p.Pro220Leu
NM_001184967.2:c.659C>T	NP_001171896.1:p.Pro220Leu
NM_001354604.2:c.815C>T MANE Select	NP_001341533.1:p.Pro272Leu
NM_001354605.2:c.812C>T	NP_001341534.1:p.Pro271Leu
NM_001354606.2:c.812C>T	NP_001341535.1:p.Pro271Leu
NM_001354607.2:c.764C>T	NP_001341536.1:p.Pro255Leu
NM_001354608.2:c.659C>T	NP_001341537.1:p.Pro220Leu
NM_198158.3:c.494C>T	NP_937801.1:p.Pro165Leu
NM_198159.3:c.815C>T	NP_937802.1:p.Pro272Leu
NM_198177.3:c.767C>T	NP_937820.1:p.Pro256Leu
NM_198178.3:c.326C>T	NP_937821.2:p.Pro109Leu
NM_000248.4:c.494C>T MANE Plus Clinical	NP_000239.1:p.Pro165Leu
NM_006722.3:c.812C>T	NP_006713.1:p.Pro271Leu