Canonical Allele Identifier: CA341277806

Gene: ABCA4

Linked Data

• dbSNP Id: rs1478578782
• gnomAD v2: 1-94522231-A-G
• MyVariant Identifiers: chr1:g.94522231A>G (hg19) ; chr1:g.94056675A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056675A>G , CM000663.2:g.94056675A>G	GRCh38
NC_000001.10:g.94522231A>G , CM000663.1:g.94522231A>G	GRCh37
NC_000001.9:g.94294819A>G	NCBI36
NG_009073.1:g.69475T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2308T>C MANE Select	ENSP00000359245.3:p.Phe770Leu
ENST00000649773.1:c.2161-1360T>C	ENSP00000496882.1:n.2161-1360T>C
ENST00000370225.3:c.2308T>C	ENSP00000359245.3:p.Phe770Leu
ENST00000536513.5:c.-65+6499T>C	ENSP00000439707.2:n.-65+6499T>C
NM_000350.2:c.2308T>C	NP_000341.2:p.Phe770Leu
NM_000350.3:c.2308T>C MANE Select	NP_000341.2:p.Phe770Leu