Canonical Allele Identifier: CA7046835

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1588463
• ClinVar RCV Id: RCV002096115 ; RCV002494208
• dbSNP Id: rs552846696
• ExAC: 13:110807657 C / T
• gnomAD v2: 13-110807657-C-T
• gnomAD v3: 13-110155310-C-T
• gnomAD v4: 13-110155310-C-T
• COSMIC: COSM5438883 ; COSM5438884
• MyVariant Identifiers: chr13:g.110807657C>T (hg19) ; chr13:g.110155310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110155310C>T , CM000675.2:g.110155310C>T	GRCh38
NC_000013.10:g.110807657C>T , CM000675.1:g.110807657C>T	GRCh37
NC_000013.9:g.109605658C>T	NCBI36
NG_011544.2:g.156840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.4728G>A MANE Select	ENSP00000364979.4:p.Ser1576=
ENST00000649720.1:n.896G>A
ENST00000650424.1:c.884G>A
ENST00000375820.8:c.4728G>A	ENSP00000364979.4:p.Ser1576=
NM_001845.5:c.4728G>A	NP_001836.3:p.Ser1576=
XM_011521048.1:c.4536G>A	XP_011519350.1:p.Ser1512=
XM_011521048.2:c.4536G>A	XP_011519350.1:p.Ser1512=
NM_001845.6:c.4728G>A MANE Select	NP_001836.3:p.Ser1576=