Canonical Allele Identifier: CA7047169

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1656774
• ClinVar RCV Id: RCV002164152 ; RCV002500362 ; RCV004047058
• dbSNP Id: rs146598127
• ExAC: 13:110822923 C / T
• gnomAD v2: 13-110822923-C-T
• gnomAD v3: 13-110170576-C-T
• gnomAD v4: 13-110170576-C-T
• MyVariant Identifiers: chr13:g.110822923C>T (hg19) ; chr13:g.110170576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170576C>T , CM000675.2:g.110170576C>T	GRCh38
NC_000013.10:g.110822923C>T , CM000675.1:g.110822923C>T	GRCh37
NC_000013.9:g.109620924C>T	NCBI36
NG_011544.2:g.141574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3713G>A MANE Select	ENSP00000364979.4:p.Arg1238His
ENST00000375820.8:c.3713G>A	ENSP00000364979.4:p.Arg1238His
NM_001845.5:c.3713G>A	NP_001836.3:p.Arg1238His
XM_011521048.1:c.3521G>A	XP_011519350.1:p.Arg1174His
XM_011521048.2:c.3521G>A	XP_011519350.1:p.Arg1174His
NM_001845.6:c.3713G>A MANE Select	NP_001836.3:p.Arg1238His