Canonical Allele Identifier: CA341286103
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1477065041
gnomAD v2: 1-94496573-C-T
gnomAD v4: 1-94031017-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031017C>T , CM000663.2:g.94031017C>T GRCh38
NC_000001.10:g.94496573C>T , CM000663.1:g.94496573C>T GRCh37
NC_000001.9:g.94269161C>T NCBI36
NG_009073.1:g.95133G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4232G>A MANE Select ENSP00000359245.3:p.Gly1411Glu
ENST00000370225.3:c.4232G>A ENSP00000359245.3:p.Gly1411Glu
ENST00000536513.5:c.608G>A ENSP00000439707.2:p.Gly203Glu
NM_000350.2:c.4232G>A NP_000341.2:p.Gly1411Glu
NM_000350.3:c.4232G>A MANE Select NP_000341.2:p.Gly1411Glu