Canonical Allele Identifier: CA518100831

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157177-G-A
• MyVariant Identifiers: chrX:g.107400407G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157177G>A , CM000685.2:g.108157177G>A	GRCh38
NC_000023.10:g.107400407G>A , CM000685.1:g.107400407G>A	GRCh37
NC_000023.9:g.107287063G>A	NCBI36
NG_012059.2:g.287298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4896C>T MANE Select	ENSP00000334733.7:p.Phe1632=
ENST00000334504.11:c.4896C>T	ENSP00000334733.7:p.Phe1632=
ENST00000372216.8:c.4899C>T	ENSP00000361290.4:p.Phe1633=
ENST00000394872.6:c.4947C>T	ENSP00000378340.3:p.Phe1649=
ENST00000538570.5:c.4725C>T	ENSP00000445236.1:p.Phe1575=
ENST00000545689.2:c.4860C>T	ENSP00000443707.2:p.Phe1620=
ENST00000621266.4:c.4824C>T	ENSP00000482970.1:p.Phe1608=
NM_001287758.1:c.4947C>T	NP_001274687.1:p.Phe1649=
NM_001287759.1:c.4824C>T	NP_001274688.1:p.Phe1608=
NM_001287760.1:c.4725C>T	NP_001274689.1:p.Phe1575=
NM_001847.3:c.4899C>T	NP_001838.2:p.Phe1633=
NM_033641.3:c.4896C>T	NP_378667.1:p.Phe1632=
XM_006724617.2:c.4950C>T	XP_006724680.1:p.Phe1650=
XM_011530852.1:c.4878C>T	XP_011529154.1:p.Phe1626=
XM_011530853.1:c.4866C>T	XP_011529155.1:p.Phe1622=
XM_006724617.3:c.4950C>T	XP_006724680.1:p.Phe1650=
XM_011530852.2:c.4878C>T	XP_011529154.1:p.Phe1626=
XM_011530853.3:c.4866C>T	XP_011529155.1:p.Phe1622=
NM_001847.4:c.4899C>T	NP_001838.2:p.Phe1633=
NM_033641.4:c.4896C>T MANE Select	NP_378667.1:p.Phe1632=
NM_001287758.2:c.4947C>T	NP_001274687.1:p.Phe1649=
NM_001287759.2:c.4824C>T	NP_001274688.1:p.Phe1608=
NM_001287760.2:c.4725C>T	NP_001274689.1:p.Phe1575=