Canonical Allele Identifier: CA10487101

Gene: COL4A6

Linked Data

• ClinVar Variation Id: 2703840
• ClinVar RCV Id: RCV003579527 ; RCV004366499
• dbSNP Id: rs774819718
• ExAC: X:107400472 C / G
• gnomAD v2: X-107400472-C-G
• gnomAD v3: X-108157242-C-G
• gnomAD v4: X-108157242-C-G
• COSMIC: COSM4982575 ; COSM4982576 ; COSM4982577
• MyVariant Identifiers: chrX:g.107400472C>G (hg19) ; chrX:g.108157242C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4831G>C MANE Select	ENSP00000334733.7:p.Glu1611Gln
ENST00000334504.11:c.4831G>C	ENSP00000334733.7:p.Glu1611Gln
ENST00000372216.8:c.4834G>C	ENSP00000361290.4:p.Glu1612Gln
ENST00000394872.6:c.4882G>C	ENSP00000378340.3:p.Glu1628Gln
ENST00000538570.5:c.4660G>C	ENSP00000445236.1:p.Glu1554Gln
ENST00000545689.2:c.4795G>C	ENSP00000443707.2:p.Glu1599Gln
ENST00000621266.4:c.4759G>C	ENSP00000482970.1:p.Glu1587Gln
NM_001287758.1:c.4882G>C	NP_001274687.1:p.Glu1628Gln
NM_001287759.1:c.4759G>C	NP_001274688.1:p.Glu1587Gln
NM_001287760.1:c.4660G>C	NP_001274689.1:p.Glu1554Gln
NM_001847.3:c.4834G>C	NP_001838.2:p.Glu1612Gln
NM_033641.3:c.4831G>C	NP_378667.1:p.Glu1611Gln
XM_006724617.2:c.4885G>C	XP_006724680.1:p.Glu1629Gln
XM_011530852.1:c.4813G>C	XP_011529154.1:p.Glu1605Gln
XM_011530853.1:c.4801G>C	XP_011529155.1:p.Glu1601Gln
XM_006724617.3:c.4885G>C	XP_006724680.1:p.Glu1629Gln
XM_011530852.2:c.4813G>C	XP_011529154.1:p.Glu1605Gln
XM_011530853.3:c.4801G>C	XP_011529155.1:p.Glu1601Gln
NM_001847.4:c.4834G>C	NP_001838.2:p.Glu1612Gln
NM_033641.4:c.4831G>C MANE Select	NP_378667.1:p.Glu1611Gln
NM_001287758.2:c.4882G>C	NP_001274687.1:p.Glu1628Gln
NM_001287759.2:c.4759G>C	NP_001274688.1:p.Glu1587Gln
NM_001287760.2:c.4660G>C	NP_001274689.1:p.Glu1554Gln