Canonical Allele Identifier: CA413848317

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400374G>C (hg19) ; chrX:g.108157144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157144G>C , CM000685.2:g.108157144G>C	GRCh38
NC_000023.10:g.107400374G>C , CM000685.1:g.107400374G>C	GRCh37
NC_000023.9:g.107287030G>C	NCBI36
NG_012059.2:g.287331C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4929C>G MANE Select	ENSP00000334733.7:p.His1643Gln
ENST00000334504.11:c.4929C>G	ENSP00000334733.7:p.His1643Gln
ENST00000372216.8:c.4932C>G	ENSP00000361290.4:p.His1644Gln
ENST00000394872.6:c.4980C>G	ENSP00000378340.3:p.His1660Gln
ENST00000538570.5:c.4758C>G	ENSP00000445236.1:p.His1586Gln
ENST00000545689.2:c.4893C>G	ENSP00000443707.2:p.His1631Gln
ENST00000621266.4:c.4857C>G	ENSP00000482970.1:p.His1619Gln
NM_001287758.1:c.4980C>G	NP_001274687.1:p.His1660Gln
NM_001287759.1:c.4857C>G	NP_001274688.1:p.His1619Gln
NM_001287760.1:c.4758C>G	NP_001274689.1:p.His1586Gln
NM_001847.3:c.4932C>G	NP_001838.2:p.His1644Gln
NM_033641.3:c.4929C>G	NP_378667.1:p.His1643Gln
XM_006724617.2:c.4983C>G	XP_006724680.1:p.His1661Gln
XM_011530852.1:c.4911C>G	XP_011529154.1:p.His1637Gln
XM_011530853.1:c.4899C>G	XP_011529155.1:p.His1633Gln
XM_006724617.3:c.4983C>G	XP_006724680.1:p.His1661Gln
XM_011530852.2:c.4911C>G	XP_011529154.1:p.His1637Gln
XM_011530853.3:c.4899C>G	XP_011529155.1:p.His1633Gln
NM_001847.4:c.4932C>G	NP_001838.2:p.His1644Gln
NM_033641.4:c.4929C>G MANE Select	NP_378667.1:p.His1643Gln
NM_001287758.2:c.4980C>G	NP_001274687.1:p.His1660Gln
NM_001287759.2:c.4857C>G	NP_001274688.1:p.His1619Gln
NM_001287760.2:c.4758C>G	NP_001274689.1:p.His1586Gln