Canonical Allele Identifier: CA341275363

Gene: ABCA4

Linked Data

• dbSNP Id: rs772463435
• gnomAD v2: 1-94512515-C-A
• MyVariant Identifiers: chr1:g.94512515C>A (hg19) ; chr1:g.94046959C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046959C>A , CM000663.2:g.94046959C>A	GRCh38
NC_000001.10:g.94512515C>A , CM000663.1:g.94512515C>A	GRCh37
NC_000001.9:g.94285103C>A	NCBI36
NG_009073.1:g.79191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2878G>T MANE Select	ENSP00000359245.3:p.Ala960Ser
ENST00000649773.1:c.2656G>T	ENSP00000496882.1:p.Ala886Ser
ENST00000370225.3:c.2878G>T	ENSP00000359245.3:p.Ala960Ser
ENST00000536513.5:c.-64-6870G>T	ENSP00000439707.2:n.-64-6870G>T
NM_000350.2:c.2878G>T	NP_000341.2:p.Ala960Ser
NM_000350.3:c.2878G>T MANE Select	NP_000341.2:p.Ala960Ser