Canonical Allele Identifier: CA518100892

Gene: COL4A6

Linked Data

• dbSNP Id: rs1240349309
• gnomAD v2: X-107400482-G-A
• gnomAD v4: X-108157252-G-A
• MyVariant Identifiers: chrX:g.107400482G>A (hg19) ; chrX:g.108157252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157252G>A , CM000685.2:g.108157252G>A	GRCh38
NC_000023.10:g.107400482G>A , CM000685.1:g.107400482G>A	GRCh37
NC_000023.9:g.107287138G>A	NCBI36
NG_012059.2:g.287223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4821C>T MANE Select	ENSP00000334733.7:p.Ala1607=
ENST00000334504.11:c.4821C>T	ENSP00000334733.7:p.Ala1607=
ENST00000372216.8:c.4824C>T	ENSP00000361290.4:p.Ala1608=
ENST00000394872.6:c.4872C>T	ENSP00000378340.3:p.Ala1624=
ENST00000538570.5:c.4650C>T	ENSP00000445236.1:p.Ala1550=
ENST00000545689.2:c.4785C>T	ENSP00000443707.2:p.Ala1595=
ENST00000621266.4:c.4749C>T	ENSP00000482970.1:p.Ala1583=
NM_001287758.1:c.4872C>T	NP_001274687.1:p.Ala1624=
NM_001287759.1:c.4749C>T	NP_001274688.1:p.Ala1583=
NM_001287760.1:c.4650C>T	NP_001274689.1:p.Ala1550=
NM_001847.3:c.4824C>T	NP_001838.2:p.Ala1608=
NM_033641.3:c.4821C>T	NP_378667.1:p.Ala1607=
XM_006724617.2:c.4875C>T	XP_006724680.1:p.Ala1625=
XM_011530852.1:c.4803C>T	XP_011529154.1:p.Ala1601=
XM_011530853.1:c.4791C>T	XP_011529155.1:p.Ala1597=
XM_006724617.3:c.4875C>T	XP_006724680.1:p.Ala1625=
XM_011530852.2:c.4803C>T	XP_011529154.1:p.Ala1601=
XM_011530853.3:c.4791C>T	XP_011529155.1:p.Ala1597=
NM_001847.4:c.4824C>T	NP_001838.2:p.Ala1608=
NM_033641.4:c.4821C>T MANE Select	NP_378667.1:p.Ala1607=
NM_001287758.2:c.4872C>T	NP_001274687.1:p.Ala1624=
NM_001287759.2:c.4749C>T	NP_001274688.1:p.Ala1583=
NM_001287760.2:c.4650C>T	NP_001274689.1:p.Ala1550=