Canonical Allele Identifier: CA413847848

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400241T>G (hg19) ; chrX:g.108157011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157011T>G , CM000685.2:g.108157011T>G	GRCh38
NC_000023.10:g.107400241T>G , CM000685.1:g.107400241T>G	GRCh37
NC_000023.9:g.107286897T>G	NCBI36
NG_012059.2:g.287464A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.5062A>C MANE Select	ENSP00000334733.7:p.Lys1688Gln
ENST00000334504.11:c.5062A>C	ENSP00000334733.7:p.Lys1688Gln
ENST00000372216.8:c.5065A>C	ENSP00000361290.4:p.Lys1689Gln
ENST00000394872.6:c.5113A>C	ENSP00000378340.3:p.Lys1705Gln
ENST00000538570.5:c.4891A>C	ENSP00000445236.1:p.Lys1631Gln
ENST00000545689.2:c.5026A>C	ENSP00000443707.2:p.Lys1676Gln
ENST00000621266.4:c.4990A>C	ENSP00000482970.1:p.Lys1664Gln
NM_001287758.1:c.5113A>C	NP_001274687.1:p.Lys1705Gln
NM_001287759.1:c.4990A>C	NP_001274688.1:p.Lys1664Gln
NM_001287760.1:c.4891A>C	NP_001274689.1:p.Lys1631Gln
NM_001847.3:c.5065A>C	NP_001838.2:p.Lys1689Gln
NM_033641.3:c.5062A>C	NP_378667.1:p.Lys1688Gln
XM_006724617.2:c.5116A>C	XP_006724680.1:p.Lys1706Gln
XM_011530852.1:c.5044A>C	XP_011529154.1:p.Lys1682Gln
XM_011530853.1:c.5032A>C	XP_011529155.1:p.Lys1678Gln
XM_006724617.3:c.5116A>C	XP_006724680.1:p.Lys1706Gln
XM_011530852.2:c.5044A>C	XP_011529154.1:p.Lys1682Gln
XM_011530853.3:c.5032A>C	XP_011529155.1:p.Lys1678Gln
NM_001847.4:c.5065A>C	NP_001838.2:p.Lys1689Gln
NM_033641.4:c.5062A>C MANE Select	NP_378667.1:p.Lys1688Gln
NM_001287758.2:c.5113A>C	NP_001274687.1:p.Lys1705Gln
NM_001287759.2:c.4990A>C	NP_001274688.1:p.Lys1664Gln
NM_001287760.2:c.4891A>C	NP_001274689.1:p.Lys1631Gln