Canonical Allele Identifier: CA413848309

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157142-T-C
• MyVariant Identifiers: chrX:g.107400372T>C (hg19) ; chrX:g.108157142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157142T>C , CM000685.2:g.108157142T>C	GRCh38
NC_000023.10:g.107400372T>C , CM000685.1:g.107400372T>C	GRCh37
NC_000023.9:g.107287028T>C	NCBI36
NG_012059.2:g.287333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4931A>G MANE Select	ENSP00000334733.7:p.Tyr1644Cys
ENST00000334504.11:c.4931A>G	ENSP00000334733.7:p.Tyr1644Cys
ENST00000372216.8:c.4934A>G	ENSP00000361290.4:p.Tyr1645Cys
ENST00000394872.6:c.4982A>G	ENSP00000378340.3:p.Tyr1661Cys
ENST00000538570.5:c.4760A>G	ENSP00000445236.1:p.Tyr1587Cys
ENST00000545689.2:c.4895A>G	ENSP00000443707.2:p.Tyr1632Cys
ENST00000621266.4:c.4859A>G	ENSP00000482970.1:p.Tyr1620Cys
NM_001287758.1:c.4982A>G	NP_001274687.1:p.Tyr1661Cys
NM_001287759.1:c.4859A>G	NP_001274688.1:p.Tyr1620Cys
NM_001287760.1:c.4760A>G	NP_001274689.1:p.Tyr1587Cys
NM_001847.3:c.4934A>G	NP_001838.2:p.Tyr1645Cys
NM_033641.3:c.4931A>G	NP_378667.1:p.Tyr1644Cys
XM_006724617.2:c.4985A>G	XP_006724680.1:p.Tyr1662Cys
XM_011530852.1:c.4913A>G	XP_011529154.1:p.Tyr1638Cys
XM_011530853.1:c.4901A>G	XP_011529155.1:p.Tyr1634Cys
XM_006724617.3:c.4985A>G	XP_006724680.1:p.Tyr1662Cys
XM_011530852.2:c.4913A>G	XP_011529154.1:p.Tyr1638Cys
XM_011530853.3:c.4901A>G	XP_011529155.1:p.Tyr1634Cys
NM_001847.4:c.4934A>G	NP_001838.2:p.Tyr1645Cys
NM_033641.4:c.4931A>G MANE Select	NP_378667.1:p.Tyr1644Cys
NM_001287758.2:c.4982A>G	NP_001274687.1:p.Tyr1661Cys
NM_001287759.2:c.4859A>G	NP_001274688.1:p.Tyr1620Cys
NM_001287760.2:c.4760A>G	NP_001274689.1:p.Tyr1587Cys