Canonical Allele Identifier: CA413848691

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400456G>C (hg19) ; chrX:g.108157226G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157226G>C , CM000685.2:g.108157226G>C	GRCh38
NC_000023.10:g.107400456G>C , CM000685.1:g.107400456G>C	GRCh37
NC_000023.9:g.107287112G>C	NCBI36
NG_012059.2:g.287249C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4847C>G MANE Select	ENSP00000334733.7:p.Ser1616Cys
ENST00000334504.11:c.4847C>G	ENSP00000334733.7:p.Ser1616Cys
ENST00000372216.8:c.4850C>G	ENSP00000361290.4:p.Ser1617Cys
ENST00000394872.6:c.4898C>G	ENSP00000378340.3:p.Ser1633Cys
ENST00000538570.5:c.4676C>G	ENSP00000445236.1:p.Ser1559Cys
ENST00000545689.2:c.4811C>G	ENSP00000443707.2:p.Ser1604Cys
ENST00000621266.4:c.4775C>G	ENSP00000482970.1:p.Ser1592Cys
NM_001287758.1:c.4898C>G	NP_001274687.1:p.Ser1633Cys
NM_001287759.1:c.4775C>G	NP_001274688.1:p.Ser1592Cys
NM_001287760.1:c.4676C>G	NP_001274689.1:p.Ser1559Cys
NM_001847.3:c.4850C>G	NP_001838.2:p.Ser1617Cys
NM_033641.3:c.4847C>G	NP_378667.1:p.Ser1616Cys
XM_006724617.2:c.4901C>G	XP_006724680.1:p.Ser1634Cys
XM_011530852.1:c.4829C>G	XP_011529154.1:p.Ser1610Cys
XM_011530853.1:c.4817C>G	XP_011529155.1:p.Ser1606Cys
XM_006724617.3:c.4901C>G	XP_006724680.1:p.Ser1634Cys
XM_011530852.2:c.4829C>G	XP_011529154.1:p.Ser1610Cys
XM_011530853.3:c.4817C>G	XP_011529155.1:p.Ser1606Cys
NM_001847.4:c.4850C>G	NP_001838.2:p.Ser1617Cys
NM_033641.4:c.4847C>G MANE Select	NP_378667.1:p.Ser1616Cys
NM_001287758.2:c.4898C>G	NP_001274687.1:p.Ser1633Cys
NM_001287759.2:c.4775C>G	NP_001274688.1:p.Ser1592Cys
NM_001287760.2:c.4676C>G	NP_001274689.1:p.Ser1559Cys