Canonical Allele Identifier: CA413848861

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157253-G-T
• MyVariant Identifiers: chrX:g.107400483G>T (hg19) ; chrX:g.108157253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157253G>T , CM000685.2:g.108157253G>T	GRCh38
NC_000023.10:g.107400483G>T , CM000685.1:g.107400483G>T	GRCh37
NC_000023.9:g.107287139G>T	NCBI36
NG_012059.2:g.287222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4820C>A MANE Select	ENSP00000334733.7:p.Ala1607Asp
ENST00000334504.11:c.4820C>A	ENSP00000334733.7:p.Ala1607Asp
ENST00000372216.8:c.4823C>A	ENSP00000361290.4:p.Ala1608Asp
ENST00000394872.6:c.4871C>A	ENSP00000378340.3:p.Ala1624Asp
ENST00000538570.5:c.4649C>A	ENSP00000445236.1:p.Ala1550Asp
ENST00000545689.2:c.4784C>A	ENSP00000443707.2:p.Ala1595Asp
ENST00000621266.4:c.4748C>A	ENSP00000482970.1:p.Ala1583Asp
NM_001287758.1:c.4871C>A	NP_001274687.1:p.Ala1624Asp
NM_001287759.1:c.4748C>A	NP_001274688.1:p.Ala1583Asp
NM_001287760.1:c.4649C>A	NP_001274689.1:p.Ala1550Asp
NM_001847.3:c.4823C>A	NP_001838.2:p.Ala1608Asp
NM_033641.3:c.4820C>A	NP_378667.1:p.Ala1607Asp
XM_006724617.2:c.4874C>A	XP_006724680.1:p.Ala1625Asp
XM_011530852.1:c.4802C>A	XP_011529154.1:p.Ala1601Asp
XM_011530853.1:c.4790C>A	XP_011529155.1:p.Ala1597Asp
XM_006724617.3:c.4874C>A	XP_006724680.1:p.Ala1625Asp
XM_011530852.2:c.4802C>A	XP_011529154.1:p.Ala1601Asp
XM_011530853.3:c.4790C>A	XP_011529155.1:p.Ala1597Asp
NM_001847.4:c.4823C>A	NP_001838.2:p.Ala1608Asp
NM_033641.4:c.4820C>A MANE Select	NP_378667.1:p.Ala1607Asp
NM_001287758.2:c.4871C>A	NP_001274687.1:p.Ala1624Asp
NM_001287759.2:c.4748C>A	NP_001274688.1:p.Ala1583Asp
NM_001287760.2:c.4649C>A	NP_001274689.1:p.Ala1550Asp