Canonical Allele Identifier: CA413848853

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157251-C-G
• MyVariant Identifiers: chrX:g.107400481C>G (hg19) ; chrX:g.108157251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157251C>G , CM000685.2:g.108157251C>G	GRCh38
NC_000023.10:g.107400481C>G , CM000685.1:g.107400481C>G	GRCh37
NC_000023.9:g.107287137C>G	NCBI36
NG_012059.2:g.287224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4822G>C MANE Select	ENSP00000334733.7:p.Ala1608Pro
ENST00000334504.11:c.4822G>C	ENSP00000334733.7:p.Ala1608Pro
ENST00000372216.8:c.4825G>C	ENSP00000361290.4:p.Ala1609Pro
ENST00000394872.6:c.4873G>C	ENSP00000378340.3:p.Ala1625Pro
ENST00000538570.5:c.4651G>C	ENSP00000445236.1:p.Ala1551Pro
ENST00000545689.2:c.4786G>C	ENSP00000443707.2:p.Ala1596Pro
ENST00000621266.4:c.4750G>C	ENSP00000482970.1:p.Ala1584Pro
NM_001287758.1:c.4873G>C	NP_001274687.1:p.Ala1625Pro
NM_001287759.1:c.4750G>C	NP_001274688.1:p.Ala1584Pro
NM_001287760.1:c.4651G>C	NP_001274689.1:p.Ala1551Pro
NM_001847.3:c.4825G>C	NP_001838.2:p.Ala1609Pro
NM_033641.3:c.4822G>C	NP_378667.1:p.Ala1608Pro
XM_006724617.2:c.4876G>C	XP_006724680.1:p.Ala1626Pro
XM_011530852.1:c.4804G>C	XP_011529154.1:p.Ala1602Pro
XM_011530853.1:c.4792G>C	XP_011529155.1:p.Ala1598Pro
XM_006724617.3:c.4876G>C	XP_006724680.1:p.Ala1626Pro
XM_011530852.2:c.4804G>C	XP_011529154.1:p.Ala1602Pro
XM_011530853.3:c.4792G>C	XP_011529155.1:p.Ala1598Pro
NM_001847.4:c.4825G>C	NP_001838.2:p.Ala1609Pro
NM_033641.4:c.4822G>C MANE Select	NP_378667.1:p.Ala1608Pro
NM_001287758.2:c.4873G>C	NP_001274687.1:p.Ala1625Pro
NM_001287759.2:c.4750G>C	NP_001274688.1:p.Ala1584Pro
NM_001287760.2:c.4651G>C	NP_001274689.1:p.Ala1551Pro