Canonical Allele Identifier: CA518100884

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400473G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157243G>C , CM000685.2:g.108157243G>C	GRCh38
NC_000023.10:g.107400473G>C , CM000685.1:g.107400473G>C	GRCh37
NC_000023.9:g.107287129G>C	NCBI36
NG_012059.2:g.287232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4830C>G MANE Select	ENSP00000334733.7:p.Ala1610=
ENST00000334504.11:c.4830C>G	ENSP00000334733.7:p.Ala1610=
ENST00000372216.8:c.4833C>G	ENSP00000361290.4:p.Ala1611=
ENST00000394872.6:c.4881C>G	ENSP00000378340.3:p.Ala1627=
ENST00000538570.5:c.4659C>G	ENSP00000445236.1:p.Ala1553=
ENST00000545689.2:c.4794C>G	ENSP00000443707.2:p.Ala1598=
ENST00000621266.4:c.4758C>G	ENSP00000482970.1:p.Ala1586=
NM_001287758.1:c.4881C>G	NP_001274687.1:p.Ala1627=
NM_001287759.1:c.4758C>G	NP_001274688.1:p.Ala1586=
NM_001287760.1:c.4659C>G	NP_001274689.1:p.Ala1553=
NM_001847.3:c.4833C>G	NP_001838.2:p.Ala1611=
NM_033641.3:c.4830C>G	NP_378667.1:p.Ala1610=
XM_006724617.2:c.4884C>G	XP_006724680.1:p.Ala1628=
XM_011530852.1:c.4812C>G	XP_011529154.1:p.Ala1604=
XM_011530853.1:c.4800C>G	XP_011529155.1:p.Ala1600=
XM_006724617.3:c.4884C>G	XP_006724680.1:p.Ala1628=
XM_011530852.2:c.4812C>G	XP_011529154.1:p.Ala1604=
XM_011530853.3:c.4800C>G	XP_011529155.1:p.Ala1600=
NM_001847.4:c.4833C>G	NP_001838.2:p.Ala1611=
NM_033641.4:c.4830C>G MANE Select	NP_378667.1:p.Ala1610=
NM_001287758.2:c.4881C>G	NP_001274687.1:p.Ala1627=
NM_001287759.2:c.4758C>G	NP_001274688.1:p.Ala1586=
NM_001287760.2:c.4659C>G	NP_001274689.1:p.Ala1553=