Canonical Allele Identifier: CA413848272

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400357T>C (hg19) ; chrX:g.108157127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157127T>C , CM000685.2:g.108157127T>C	GRCh38
NC_000023.10:g.107400357T>C , CM000685.1:g.107400357T>C	GRCh37
NC_000023.9:g.107287013T>C	NCBI36
NG_012059.2:g.287348A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4946A>G MANE Select	ENSP00000334733.7:p.Tyr1649Cys
ENST00000334504.11:c.4946A>G	ENSP00000334733.7:p.Tyr1649Cys
ENST00000372216.8:c.4949A>G	ENSP00000361290.4:p.Tyr1650Cys
ENST00000394872.6:c.4997A>G	ENSP00000378340.3:p.Tyr1666Cys
ENST00000538570.5:c.4775A>G	ENSP00000445236.1:p.Tyr1592Cys
ENST00000545689.2:c.4910A>G	ENSP00000443707.2:p.Tyr1637Cys
ENST00000621266.4:c.4874A>G	ENSP00000482970.1:p.Tyr1625Cys
NM_001287758.1:c.4997A>G	NP_001274687.1:p.Tyr1666Cys
NM_001287759.1:c.4874A>G	NP_001274688.1:p.Tyr1625Cys
NM_001287760.1:c.4775A>G	NP_001274689.1:p.Tyr1592Cys
NM_001847.3:c.4949A>G	NP_001838.2:p.Tyr1650Cys
NM_033641.3:c.4946A>G	NP_378667.1:p.Tyr1649Cys
XM_006724617.2:c.5000A>G	XP_006724680.1:p.Tyr1667Cys
XM_011530852.1:c.4928A>G	XP_011529154.1:p.Tyr1643Cys
XM_011530853.1:c.4916A>G	XP_011529155.1:p.Tyr1639Cys
XM_006724617.3:c.5000A>G	XP_006724680.1:p.Tyr1667Cys
XM_011530852.2:c.4928A>G	XP_011529154.1:p.Tyr1643Cys
XM_011530853.3:c.4916A>G	XP_011529155.1:p.Tyr1639Cys
NM_001847.4:c.4949A>G	NP_001838.2:p.Tyr1650Cys
NM_033641.4:c.4946A>G MANE Select	NP_378667.1:p.Tyr1649Cys
NM_001287758.2:c.4997A>G	NP_001274687.1:p.Tyr1666Cys
NM_001287759.2:c.4874A>G	NP_001274688.1:p.Tyr1625Cys
NM_001287760.2:c.4775A>G	NP_001274689.1:p.Tyr1592Cys