Canonical Allele Identifier: CA341279668
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1661165608
gnomAD v3: 1-94062712-A-C
gnomAD v4: 1-94062712-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062712A>C , CM000663.2:g.94062712A>C GRCh38
NC_000001.10:g.94528268A>C , CM000663.1:g.94528268A>C GRCh37
NC_000001.9:g.94300856A>C NCBI36
NG_009073.1:g.63438T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1802T>G MANE Select ENSP00000359245.3:p.Phe601Cys
ENST00000649773.1:c.1802T>G ENSP00000496882.1:p.Phe601Cys
ENST00000370225.3:c.1802T>G ENSP00000359245.3:p.Phe601Cys
ENST00000536513.5:c.-65+462T>G ENSP00000439707.2:n.-65+462T>G
NM_000350.2:c.1802T>G NP_000341.2:p.Phe601Cys
NM_000350.3:c.1802T>G MANE Select NP_000341.2:p.Phe601Cys