Canonical Allele Identifier: CA7047634
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2920236
ClinVar RCV Id: RCV003736195
dbSNP Id: rs370939644

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179253T>C , CM000675.2:g.110179253T>C GRCh38
NC_000013.10:g.110831600T>C , CM000675.1:g.110831600T>C GRCh37
NC_000013.9:g.109629601T>C NCBI36
NG_011544.2:g.132897A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+18A>G MANE Select ENSP00000364979.4:n.2344+18A>G
ENST00000649738.1:n.2474+18A>G
ENST00000375820.8:c.2344+18A>G ENSP00000364979.4:n.2344+18A>G
NM_001845.5:c.2344+18A>G NP_001836.3:n.2344+18A>G
XM_011521048.1:c.2152+18A>G XP_011519350.1:n.2152+18A>G
XM_011521048.2:c.2152+18A>G XP_011519350.1:n.2152+18A>G
NM_001845.6:c.2344+18A>G MANE Select NP_001836.3:n.2344+18A>G