Canonical Allele Identifier: CA518100548

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400233C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157003C>G , CM000685.2:g.108157003C>G	GRCh38
NC_000023.10:g.107400233C>G , CM000685.1:g.107400233C>G	GRCh37
NC_000023.9:g.107286889C>G	NCBI36
NG_012059.2:g.287472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5070G>C MANE Select	ENSP00000334733.7:p.Leu1690=
ENST00000334504.11:c.5070G>C	ENSP00000334733.7:p.Leu1690=
ENST00000372216.8:c.5073G>C	ENSP00000361290.4:p.Leu1691=
ENST00000394872.6:c.5121G>C	ENSP00000378340.3:p.Leu1707=
ENST00000538570.5:c.4899G>C	ENSP00000445236.1:p.Leu1633=
ENST00000545689.2:c.5034G>C	ENSP00000443707.2:p.Leu1678=
ENST00000621266.4:c.4998G>C	ENSP00000482970.1:p.Leu1666=
NM_001287758.1:c.5121G>C	NP_001274687.1:p.Leu1707=
NM_001287759.1:c.4998G>C	NP_001274688.1:p.Leu1666=
NM_001287760.1:c.4899G>C	NP_001274689.1:p.Leu1633=
NM_001847.3:c.5073G>C	NP_001838.2:p.Leu1691=
NM_033641.3:c.5070G>C	NP_378667.1:p.Leu1690=
XM_006724617.2:c.5124G>C	XP_006724680.1:p.Leu1708=
XM_011530852.1:c.5052G>C	XP_011529154.1:p.Leu1684=
XM_011530853.1:c.5040G>C	XP_011529155.1:p.Leu1680=
XM_006724617.3:c.5124G>C	XP_006724680.1:p.Leu1708=
XM_011530852.2:c.5052G>C	XP_011529154.1:p.Leu1684=
XM_011530853.3:c.5040G>C	XP_011529155.1:p.Leu1680=
NM_001847.4:c.5073G>C	NP_001838.2:p.Leu1691=
NM_033641.4:c.5070G>C MANE Select	NP_378667.1:p.Leu1690=
NM_001287758.2:c.5121G>C	NP_001274687.1:p.Leu1707=
NM_001287759.2:c.4998G>C	NP_001274688.1:p.Leu1666=
NM_001287760.2:c.4899G>C	NP_001274689.1:p.Leu1633=