Canonical Allele Identifier: CA10487102

Gene: COL4A6

Linked Data

• dbSNP Id: rs774819718
• ExAC: X:107400472 C / T
• gnomAD v2: X-107400472-C-T
• gnomAD v4: X-108157242-C-T
• MyVariant Identifiers: chrX:g.107400472C>T (hg19) ; chrX:g.108157242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157242C>T , CM000685.2:g.108157242C>T	GRCh38
NC_000023.10:g.107400472C>T , CM000685.1:g.107400472C>T	GRCh37
NC_000023.9:g.107287128C>T	NCBI36
NG_012059.2:g.287233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4831G>A MANE Select	ENSP00000334733.7:p.Glu1611Lys
ENST00000334504.11:c.4831G>A	ENSP00000334733.7:p.Glu1611Lys
ENST00000372216.8:c.4834G>A	ENSP00000361290.4:p.Glu1612Lys
ENST00000394872.6:c.4882G>A	ENSP00000378340.3:p.Glu1628Lys
ENST00000538570.5:c.4660G>A	ENSP00000445236.1:p.Glu1554Lys
ENST00000545689.2:c.4795G>A	ENSP00000443707.2:p.Glu1599Lys
ENST00000621266.4:c.4759G>A	ENSP00000482970.1:p.Glu1587Lys
NM_001287758.1:c.4882G>A	NP_001274687.1:p.Glu1628Lys
NM_001287759.1:c.4759G>A	NP_001274688.1:p.Glu1587Lys
NM_001287760.1:c.4660G>A	NP_001274689.1:p.Glu1554Lys
NM_001847.3:c.4834G>A	NP_001838.2:p.Glu1612Lys
NM_033641.3:c.4831G>A	NP_378667.1:p.Glu1611Lys
XM_006724617.2:c.4885G>A	XP_006724680.1:p.Glu1629Lys
XM_011530852.1:c.4813G>A	XP_011529154.1:p.Glu1605Lys
XM_011530853.1:c.4801G>A	XP_011529155.1:p.Glu1601Lys
XM_006724617.3:c.4885G>A	XP_006724680.1:p.Glu1629Lys
XM_011530852.2:c.4813G>A	XP_011529154.1:p.Glu1605Lys
XM_011530853.3:c.4801G>A	XP_011529155.1:p.Glu1601Lys
NM_001847.4:c.4834G>A	NP_001838.2:p.Glu1612Lys
NM_033641.4:c.4831G>A MANE Select	NP_378667.1:p.Glu1611Lys
NM_001287758.2:c.4882G>A	NP_001274687.1:p.Glu1628Lys
NM_001287759.2:c.4759G>A	NP_001274688.1:p.Glu1587Lys
NM_001287760.2:c.4660G>A	NP_001274689.1:p.Glu1554Lys