Canonical Allele Identifier: CA7047135
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs780605493

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169684G>C , CM000675.2:g.110169684G>C GRCh38
NC_000013.10:g.110822031G>C , CM000675.1:g.110822031G>C GRCh37
NC_000013.9:g.109620032G>C NCBI36
NG_011544.2:g.142466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3821C>G MANE Select ENSP00000364979.4:p.Pro1274Arg
ENST00000375820.8:c.3821C>G ENSP00000364979.4:p.Pro1274Arg
NM_001845.5:c.3821C>G NP_001836.3:p.Pro1274Arg
XM_011521048.1:c.3629C>G XP_011519350.1:p.Pro1210Arg
XM_011521048.2:c.3629C>G XP_011519350.1:p.Pro1210Arg
NM_001845.6:c.3821C>G MANE Select NP_001836.3:p.Pro1274Arg