Canonical Allele Identifier: CA484788814
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822105A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169758A>G , CM000675.2:g.110169758A>G GRCh38
NC_000013.10:g.110822105A>G , CM000675.1:g.110822105A>G GRCh37
NC_000013.9:g.109620106A>G NCBI36
NG_011544.2:g.142392T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3747T>C MANE Select ENSP00000364979.4:p.Leu1249=
ENST00000375820.8:c.3747T>C ENSP00000364979.4:p.Leu1249=
NM_001845.5:c.3747T>C NP_001836.3:p.Leu1249=
XM_011521048.1:c.3555T>C XP_011519350.1:p.Leu1185=
XM_011521048.2:c.3555T>C XP_011519350.1:p.Leu1185=
NM_001845.6:c.3747T>C MANE Select NP_001836.3:p.Leu1249=