Canonical Allele Identifier: CA16042820
Gene: COL4A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372328
ClinVar RCV Id: RCV000414476
dbSNP Id: rs1057517719

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110205367G>A , CM000675.2:g.110205367G>A GRCh38
NC_000013.10:g.110857714G>A , CM000675.1:g.110857714G>A GRCh37
NC_000013.9:g.109655715G>A NCBI36
NG_011544.2:g.106783C>T

Transcript Alleles

HGVS Amino-acid change
NM_001303110.1:c.943C>T VV NP_001290039.1:p.Arg315Cys
NM_001845.5:c.943C>T VV NP_001836.3:p.Arg315Cys
XM_011521048.1:c.751C>T XP_011519350.1:p.Arg251Cys
XM_011521048.2:c.751C>T
NM_001845.6:c.943C>T VV MANE Preferred
ENST00000375820.8:c.943C>T ENSP00000364979.4:p.Arg315Cys
ENST00000543140.5:c.943C>T ENSP00000443348.1:p.Arg315Cys