Canonical Allele Identifier: CA26843966

Gene: ABCA4

Linked Data

• dbSNP Id: rs547098179
• gnomAD v2: 1-94522062-T-G
• gnomAD v3: 1-94056506-T-G
• gnomAD v4: 1-94056506-T-G
• MyVariant Identifiers: chr1:g.94522062T>G (hg19) ; chr1:g.94056506T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056506T>G , CM000663.2:g.94056506T>G	GRCh38
NC_000001.10:g.94522062T>G , CM000663.1:g.94522062T>G	GRCh37
NC_000001.9:g.94294650T>G	NCBI36
NG_009073.1:g.69644A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+95A>C MANE Select	ENSP00000359245.3:n.2382+95A>C
ENST00000649773.1:c.2161-1191A>C	ENSP00000496882.1:n.2161-1191A>C
ENST00000370225.3:c.2382+95A>C	ENSP00000359245.3:n.2382+95A>C
ENST00000536513.5:c.-65+6668A>C	ENSP00000439707.2:n.-65+6668A>C
NM_000350.2:c.2382+95A>C	NP_000341.2:n.2382+95A>C
NM_000350.3:c.2382+95A>C MANE Select	NP_000341.2:n.2382+95A>C