Canonical Allele Identifier: CA2450541991

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157226G= , CM000685.2:g.108157226G=	GRCh38
NC_000023.10:g.107400456G= , CM000685.1:g.107400456G=	GRCh37
NC_000023.9:g.107287112G=	NCBI36
NG_012059.2:g.287249C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4847C= MANE Select	ENSP00000334733.7:p.Ser1616=
ENST00000334504.11:c.4847C=	ENSP00000334733.7:p.Ser1616=
ENST00000372216.8:c.4850C=	ENSP00000361290.4:p.Ser1617=
ENST00000394872.6:c.4898C=	ENSP00000378340.3:p.Ser1633=
ENST00000538570.5:c.4676C=	ENSP00000445236.1:p.Ser1559=
ENST00000545689.2:c.4811C=	ENSP00000443707.2:p.Ser1604=
ENST00000621266.4:c.4775C=	ENSP00000482970.1:p.Ser1592=
NM_001287758.1:c.4898C=	NP_001274687.1:p.Ser1633=
NM_001287759.1:c.4775C=	NP_001274688.1:p.Ser1592=
NM_001287760.1:c.4676C=	NP_001274689.1:p.Ser1559=
NM_001847.3:c.4850C=	NP_001838.2:p.Ser1617=
NM_033641.3:c.4847C=	NP_378667.1:p.Ser1616=
XM_006724617.2:c.4901C=	XP_006724680.1:p.Ser1634=
XM_011530852.1:c.4829C=	XP_011529154.1:p.Ser1610=
XM_011530853.1:c.4817C=	XP_011529155.1:p.Ser1606=
XM_006724617.3:c.4901C=	XP_006724680.1:p.Ser1634=
XM_011530852.2:c.4829C=	XP_011529154.1:p.Ser1610=
XM_011530853.3:c.4817C=	XP_011529155.1:p.Ser1606=
NM_001847.4:c.4850C=	NP_001838.2:p.Ser1617=
NM_033641.4:c.4847C= MANE Select	NP_378667.1:p.Ser1616=
NM_001287758.2:c.4898C=	NP_001274687.1:p.Ser1633=
NM_001287759.2:c.4775C=	NP_001274688.1:p.Ser1592=
NM_001287760.2:c.4676C=	NP_001274689.1:p.Ser1559=