Canonical Allele Identifier: CA16604634

Gene: MITF

Linked Data

• ClinVar Variation Id: 381604
• ClinVar RCV Id: RCV000442415 ; RCV001290159 ; RCV003766234 ; RCV003987532
• dbSNP Id: rs1057521096
• MyVariant Identifiers: chr3:g.70014048G>A (hg19) ; chr3:g.69964897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964897G>A , CM000665.2:g.69964897G>A	GRCh38
NC_000003.11:g.70014048G>A , CM000665.1:g.70014048G>A	GRCh37
NC_000003.10:g.70096738G>A	NCBI36
NG_011631.1:g.230416G>A , LRG_776:g.230416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1164G>A	ENSP00000324443.5:p.Thr388=
ENST00000687384.1:c.1161G>A	ENSP00000510225.1:p.Thr387=
ENST00000689390.1:n.1386G>A
ENST00000693031.1:c.1137G>A	ENSP00000509845.1:p.Thr379=
ENST00000693549.1:c.1114-17G>A	ENSP00000509358.1:n.1114-17G>A
ENST00000314589.10:c.1164G>A	ENSP00000324443.5:p.Thr388=
ENST00000352241.9:c.1230G>A MANE Select	ENSP00000295600.8:p.Thr410=
ENST00000394351.9:c.909G>A MANE Plus Clinical	ENSP00000377880.3:p.Thr303=
ENST00000448226.9:c.1209G>A	ENSP00000391803.3:p.Thr403=
ENST00000642352.1:c.1212G>A	ENSP00000494105.1:p.Thr404=
ENST00000314557.10:c.891G>A	ENSP00000324246.6:p.Thr297=
ENST00000314589.9:c.1164G>A	ENSP00000324443.5:p.Thr388=
ENST00000328528.10:c.1209G>A	ENSP00000327867.6:p.Thr403=
ENST00000352241.8:c.1212G>A	ENSP00000295600.7:p.Thr404=
ENST00000394351.7:c.909G>A	ENSP00000377880.3:p.Thr303=
ENST00000448226.6:c.1230G>A	ENSP00000391803.2:p.Thr410=
ENST00000472437.5:c.1056G>A	ENSP00000418845.1:p.Thr352=
ENST00000478490.5:c.*556G>A	ENSP00000433487.1:n.*556G>A
ENST00000531774.1:c.723G>A	ENSP00000435909.1:p.Thr241=
NM_000248.3:c.909G>A , LRG_776t1:c.909G>A	NP_000239.1:p.Thr303=
NM_001184967.1:c.1056G>A	NP_001171896.1:p.Thr352=
NM_006722.2:c.1209G>A	NP_006713.1:p.Thr403=
NM_198158.2:c.891G>A	NP_937801.1:p.Thr297=
NM_198159.2:c.1212G>A	NP_937802.1:p.Thr404=
NM_198177.2:c.1164G>A	NP_937820.1:p.Thr388=
NM_198178.2:c.723G>A	NP_937821.2:p.Thr241=
XM_005264754.1:c.1230G>A	XP_005264811.1:p.Thr410=
XM_005264755.2:c.1182G>A	XP_005264812.1:p.Thr394=
XM_006713164.2:c.1074G>A	XP_006713227.1:p.Thr358=
XM_011533722.1:c.1227G>A	XP_011532024.1:p.Thr409=
XM_011533723.1:c.1179G>A	XP_011532025.1:p.Thr393=
XM_011533724.1:c.1074G>A	XP_011532026.1:p.Thr358=
XM_011533725.1:c.1062G>A	XP_011532027.1:p.Thr354=
XM_011533726.1:c.1044G>A	XP_011532028.1:p.Thr348=
NM_001354604.1:c.1230G>A	NP_001341533.1:p.Thr410=
NM_001354605.1:c.1227G>A	NP_001341534.1:p.Thr409=
NM_001354606.1:c.1209G>A	NP_001341535.1:p.Thr403=
NM_001354607.1:c.1161G>A	NP_001341536.1:p.Thr387=
NM_001354608.1:c.1056G>A	NP_001341537.1:p.Thr352=
NM_001184967.2:c.1056G>A	NP_001171896.1:p.Thr352=
NM_001354604.2:c.1230G>A MANE Select	NP_001341533.1:p.Thr410=
NM_001354605.2:c.1227G>A	NP_001341534.1:p.Thr409=
NM_001354606.2:c.1209G>A	NP_001341535.1:p.Thr403=
NM_001354607.2:c.1161G>A	NP_001341536.1:p.Thr387=
NM_001354608.2:c.1056G>A	NP_001341537.1:p.Thr352=
NM_198158.3:c.891G>A	NP_937801.1:p.Thr297=
NM_198159.3:c.1212G>A	NP_937802.1:p.Thr404=
NM_198177.3:c.1164G>A	NP_937820.1:p.Thr388=
NM_198178.3:c.723G>A	NP_937821.2:p.Thr241=
NM_000248.4:c.909G>A MANE Plus Clinical	NP_000239.1:p.Thr303=
NM_006722.3:c.1209G>A	NP_006713.1:p.Thr403=