Canonical Allele Identifier: CA524384475

Gene: ABCA4

Linked Data

• dbSNP Id: rs1169750628
• gnomAD v2: 1-94509108-A-G
• gnomAD v4: 1-94043552-A-G
• MyVariant Identifiers: chr1:g.94509108A>G (hg19) ; chr1:g.94043552A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043552A>G , CM000663.2:g.94043552A>G	GRCh38
NC_000001.10:g.94509108A>G , CM000663.1:g.94509108A>G	GRCh37
NC_000001.9:g.94281696A>G	NCBI36
NG_009073.1:g.82598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-77T>C MANE Select	ENSP00000359245.3:n.3051-77T>C
ENST00000370225.3:c.3051-77T>C	ENSP00000359245.3:n.3051-77T>C
ENST00000536513.5:c.-64-3463T>C	ENSP00000439707.2:n.-64-3463T>C
NM_000350.2:c.3051-77T>C	NP_000341.2:n.3051-77T>C
NM_000350.3:c.3051-77T>C MANE Select	NP_000341.2:n.3051-77T>C