Canonical Allele Identifier: CA484981306
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110831715G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179368G>C , CM000675.2:g.110179368G>C GRCh38
NC_000013.10:g.110831715G>C , CM000675.1:g.110831715G>C GRCh37
NC_000013.9:g.109629716G>C NCBI36
NG_011544.2:g.132782C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2247C>G MANE Select ENSP00000364979.4:p.Gly749=
ENST00000649738.1:n.2377C>G
ENST00000375820.8:c.2247C>G ENSP00000364979.4:p.Gly749=
NM_001845.5:c.2247C>G NP_001836.3:p.Gly749=
XM_011521048.1:c.2055C>G XP_011519350.1:p.Gly685=
XM_011521048.2:c.2055C>G XP_011519350.1:p.Gly685=
NM_001845.6:c.2247C>G MANE Select NP_001836.3:p.Gly749=