Canonical Allele Identifier: CA388662092
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169760G>A , CM000675.2:g.110169760G>A GRCh38
NC_000013.10:g.110822107G>A , CM000675.1:g.110822107G>A GRCh37
NC_000013.9:g.109620108G>A NCBI36
NG_011544.2:g.142390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3745C>T MANE Select ENSP00000364979.4:p.Leu1249Phe
ENST00000375820.8:c.3745C>T ENSP00000364979.4:p.Leu1249Phe
NM_001845.5:c.3745C>T NP_001836.3:p.Leu1249Phe
XM_011521048.1:c.3553C>T XP_011519350.1:p.Leu1185Phe
XM_011521048.2:c.3553C>T XP_011519350.1:p.Leu1185Phe
NM_001845.6:c.3745C>T MANE Select NP_001836.3:p.Leu1249Phe