Canonical Allele Identifier: CA413848823

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400475C>A (hg19) ; chrX:g.108157245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157245C>A , CM000685.2:g.108157245C>A	GRCh38
NC_000023.10:g.107400475C>A , CM000685.1:g.107400475C>A	GRCh37
NC_000023.9:g.107287131C>A	NCBI36
NG_012059.2:g.287230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4828G>T MANE Select	ENSP00000334733.7:p.Ala1610Ser
ENST00000334504.11:c.4828G>T	ENSP00000334733.7:p.Ala1610Ser
ENST00000372216.8:c.4831G>T	ENSP00000361290.4:p.Ala1611Ser
ENST00000394872.6:c.4879G>T	ENSP00000378340.3:p.Ala1627Ser
ENST00000538570.5:c.4657G>T	ENSP00000445236.1:p.Ala1553Ser
ENST00000545689.2:c.4792G>T	ENSP00000443707.2:p.Ala1598Ser
ENST00000621266.4:c.4756G>T	ENSP00000482970.1:p.Ala1586Ser
NM_001287758.1:c.4879G>T	NP_001274687.1:p.Ala1627Ser
NM_001287759.1:c.4756G>T	NP_001274688.1:p.Ala1586Ser
NM_001287760.1:c.4657G>T	NP_001274689.1:p.Ala1553Ser
NM_001847.3:c.4831G>T	NP_001838.2:p.Ala1611Ser
NM_033641.3:c.4828G>T	NP_378667.1:p.Ala1610Ser
XM_006724617.2:c.4882G>T	XP_006724680.1:p.Ala1628Ser
XM_011530852.1:c.4810G>T	XP_011529154.1:p.Ala1604Ser
XM_011530853.1:c.4798G>T	XP_011529155.1:p.Ala1600Ser
XM_006724617.3:c.4882G>T	XP_006724680.1:p.Ala1628Ser
XM_011530852.2:c.4810G>T	XP_011529154.1:p.Ala1604Ser
XM_011530853.3:c.4798G>T	XP_011529155.1:p.Ala1600Ser
NM_001847.4:c.4831G>T	NP_001838.2:p.Ala1611Ser
NM_033641.4:c.4828G>T MANE Select	NP_378667.1:p.Ala1610Ser
NM_001287758.2:c.4879G>T	NP_001274687.1:p.Ala1627Ser
NM_001287759.2:c.4756G>T	NP_001274688.1:p.Ala1586Ser
NM_001287760.2:c.4657G>T	NP_001274689.1:p.Ala1553Ser