Canonical Allele Identifier: CA16617209
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 417984
ClinVar RCV Id: RCV000483929
dbSNP Id: rs1064793008

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056734A>G , CM000663.2:g.94056734A>G GRCh38
NC_000001.10:g.94522290A>G , CM000663.1:g.94522290A>G GRCh37
NC_000001.9:g.94294878A>G NCBI36
NG_009073.1:g.69416T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2249T>C MANE Select ENSP00000359245.3:p.Leu750Pro
ENST00000649773.1:c.2161-1419T>C ENSP00000496882.1:n.2161-1419T>C
ENST00000370225.3:c.2249T>C ENSP00000359245.3:p.Leu750Pro
ENST00000536513.5:c.-65+6440T>C ENSP00000439707.2:n.-65+6440T>C
NM_000350.2:c.2249T>C NP_000341.2:p.Leu750Pro
NM_000350.3:c.2249T>C MANE Select NP_000341.2:p.Leu750Pro