Canonical Allele Identifier: CA413847846

Gene: COL4A6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000334504.12:c.5062A>G MANE Select	ENSP00000334733.7:p.Lys1688Glu
ENST00000334504.11:c.5062A>G	ENSP00000334733.7:p.Lys1688Glu
ENST00000372216.8:c.5065A>G	ENSP00000361290.4:p.Lys1689Glu
ENST00000394872.6:c.5113A>G	ENSP00000378340.3:p.Lys1705Glu
ENST00000538570.5:c.4891A>G	ENSP00000445236.1:p.Lys1631Glu
ENST00000545689.2:c.5026A>G	ENSP00000443707.2:p.Lys1676Glu
ENST00000621266.4:c.4990A>G	ENSP00000482970.1:p.Lys1664Glu
NM_001287758.1:c.5113A>G	NP_001274687.1:p.Lys1705Glu
NM_001287759.1:c.4990A>G	NP_001274688.1:p.Lys1664Glu
NM_001287760.1:c.4891A>G	NP_001274689.1:p.Lys1631Glu
NM_001847.3:c.5065A>G	NP_001838.2:p.Lys1689Glu
NM_033641.3:c.5062A>G	NP_378667.1:p.Lys1688Glu
XM_006724617.2:c.5116A>G	XP_006724680.1:p.Lys1706Glu
XM_011530852.1:c.5044A>G	XP_011529154.1:p.Lys1682Glu
XM_011530853.1:c.5032A>G	XP_011529155.1:p.Lys1678Glu
XM_006724617.3:c.5116A>G	XP_006724680.1:p.Lys1706Glu
XM_011530852.2:c.5044A>G	XP_011529154.1:p.Lys1682Glu
XM_011530853.3:c.5032A>G	XP_011529155.1:p.Lys1678Glu
NM_001847.4:c.5065A>G	NP_001838.2:p.Lys1689Glu
NM_033641.4:c.5062A>G MANE Select	NP_378667.1:p.Lys1688Glu
NM_001287758.2:c.5113A>G	NP_001274687.1:p.Lys1705Glu
NM_001287759.2:c.4990A>G	NP_001274688.1:p.Lys1664Glu
NM_001287760.2:c.4891A>G	NP_001274689.1:p.Lys1631Glu