Canonical Allele Identifier: CA341279636
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1661165271
gnomAD v4: 1-94062704-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062704T>C , CM000663.2:g.94062704T>C GRCh38
NC_000001.10:g.94528260T>C , CM000663.1:g.94528260T>C GRCh37
NC_000001.9:g.94300848T>C NCBI36
NG_009073.1:g.63446A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1810A>G MANE Select ENSP00000359245.3:p.Ile604Val
ENST00000649773.1:c.1810A>G ENSP00000496882.1:p.Ile604Val
ENST00000370225.3:c.1810A>G ENSP00000359245.3:p.Ile604Val
ENST00000536513.5:c.-65+470A>G ENSP00000439707.2:n.-65+470A>G
NM_000350.2:c.1810A>G NP_000341.2:p.Ile604Val
NM_000350.3:c.1810A>G MANE Select NP_000341.2:p.Ile604Val