Canonical Allele Identifier: CA524697483

Gene: ABCA4

Linked Data

• dbSNP Id: rs1227130414
• gnomAD v2: 1-94506754-C-G
• gnomAD v3: 1-94041198-C-G
• gnomAD v4: 1-94041198-C-G
• MyVariant Identifiers: chr1:g.94506754C>G (hg19) ; chr1:g.94041198C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041198C>G , CM000663.2:g.94041198C>G	GRCh38
NC_000001.10:g.94506754C>G , CM000663.1:g.94506754C>G	GRCh37
NC_000001.9:g.94279342C>G	NCBI36
NG_009073.1:g.84952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+11G>C MANE Select	ENSP00000359245.3:n.3522+11G>C
ENST00000370225.3:c.3522+11G>C	ENSP00000359245.3:n.3522+11G>C
ENST00000536513.5:c.-64-1109G>C	ENSP00000439707.2:n.-64-1109G>C
NM_000350.2:c.3522+11G>C	NP_000341.2:n.3522+11G>C
NM_000350.3:c.3522+11G>C MANE Select	NP_000341.2:n.3522+11G>C