Canonical Allele Identifier: CA413847988

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400283C>G (hg19) ; chrX:g.108157053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157053C>G , CM000685.2:g.108157053C>G	GRCh38
NC_000023.10:g.107400283C>G , CM000685.1:g.107400283C>G	GRCh37
NC_000023.9:g.107286939C>G	NCBI36
NG_012059.2:g.287422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5020G>C MANE Select	ENSP00000334733.7:p.Gly1674Arg
ENST00000334504.11:c.5020G>C	ENSP00000334733.7:p.Gly1674Arg
ENST00000372216.8:c.5023G>C	ENSP00000361290.4:p.Gly1675Arg
ENST00000394872.6:c.5071G>C	ENSP00000378340.3:p.Gly1691Arg
ENST00000538570.5:c.4849G>C	ENSP00000445236.1:p.Gly1617Arg
ENST00000545689.2:c.4984G>C	ENSP00000443707.2:p.Gly1662Arg
ENST00000621266.4:c.4948G>C	ENSP00000482970.1:p.Gly1650Arg
NM_001287758.1:c.5071G>C	NP_001274687.1:p.Gly1691Arg
NM_001287759.1:c.4948G>C	NP_001274688.1:p.Gly1650Arg
NM_001287760.1:c.4849G>C	NP_001274689.1:p.Gly1617Arg
NM_001847.3:c.5023G>C	NP_001838.2:p.Gly1675Arg
NM_033641.3:c.5020G>C	NP_378667.1:p.Gly1674Arg
XM_006724617.2:c.5074G>C	XP_006724680.1:p.Gly1692Arg
XM_011530852.1:c.5002G>C	XP_011529154.1:p.Gly1668Arg
XM_011530853.1:c.4990G>C	XP_011529155.1:p.Gly1664Arg
XM_006724617.3:c.5074G>C	XP_006724680.1:p.Gly1692Arg
XM_011530852.2:c.5002G>C	XP_011529154.1:p.Gly1668Arg
XM_011530853.3:c.4990G>C	XP_011529155.1:p.Gly1664Arg
NM_001847.4:c.5023G>C	NP_001838.2:p.Gly1675Arg
NM_033641.4:c.5020G>C MANE Select	NP_378667.1:p.Gly1674Arg
NM_001287758.2:c.5071G>C	NP_001274687.1:p.Gly1691Arg
NM_001287759.2:c.4948G>C	NP_001274688.1:p.Gly1650Arg
NM_001287760.2:c.4849G>C	NP_001274689.1:p.Gly1617Arg