Canonical Allele Identifier: CA524384534

Gene: ABCA4

Linked Data

• dbSNP Id: rs1483633053
• gnomAD v2: 1-94509240-A-C
• gnomAD v3: 1-94043684-A-C
• gnomAD v4: 1-94043684-A-C
• MyVariant Identifiers: chr1:g.94509240A>C (hg19) ; chr1:g.94043684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043684A>C , CM000663.2:g.94043684A>C	GRCh38
NC_000001.10:g.94509240A>C , CM000663.1:g.94509240A>C	GRCh37
NC_000001.9:g.94281828A>C	NCBI36
NG_009073.1:g.82466T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-209T>G MANE Select	ENSP00000359245.3:n.3051-209T>G
ENST00000370225.3:c.3051-209T>G	ENSP00000359245.3:n.3051-209T>G
ENST00000536513.5:c.-64-3595T>G	ENSP00000439707.2:n.-64-3595T>G
NM_000350.2:c.3051-209T>G	NP_000341.2:n.3051-209T>G
NM_000350.3:c.3051-209T>G MANE Select	NP_000341.2:n.3051-209T>G