Canonical Allele Identifier: CA7047168

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 734489
• ClinVar RCV Id: RCV000909915 ; RCV002502728
• dbSNP Id: rs377765047
• ExAC: 13:110822922 G / A
• gnomAD v2: 13-110822922-G-A
• gnomAD v3: 13-110170575-G-A
• gnomAD v4: 13-110170575-G-A
• COSMIC: COSM4045921 ; COSM4045922
• MyVariant Identifiers: chr13:g.110822922G>A (hg19) ; chr13:g.110170575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170575G>A , CM000675.2:g.110170575G>A	GRCh38
NC_000013.10:g.110822922G>A , CM000675.1:g.110822922G>A	GRCh37
NC_000013.9:g.109620923G>A	NCBI36
NG_011544.2:g.141575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3714C>T MANE Select	ENSP00000364979.4:p.Arg1238=
ENST00000375820.8:c.3714C>T	ENSP00000364979.4:p.Arg1238=
NM_001845.5:c.3714C>T	NP_001836.3:p.Arg1238=
XM_011521048.1:c.3522C>T	XP_011519350.1:p.Arg1174=
XM_011521048.2:c.3522C>T	XP_011519350.1:p.Arg1174=
NM_001845.6:c.3714C>T MANE Select	NP_001836.3:p.Arg1238=