Canonical Allele Identifier: CA26844964

Gene: ABCA4

Linked Data

• dbSNP Id: rs193036367
• gnomAD v2: 1-94487108-G-A
• gnomAD v3: 1-94021552-G-A
• gnomAD v4: 1-94021552-G-A
• MyVariant Identifiers: chr1:g.94487108G>A (hg19) ; chr1:g.94021552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021552G>A , CM000663.2:g.94021552G>A	GRCh38
NC_000001.10:g.94487108G>A , CM000663.1:g.94487108G>A	GRCh37
NC_000001.9:g.94259696G>A	NCBI36
NG_009073.1:g.104598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4848+88C>T MANE Select	ENSP00000359245.3:n.4848+88C>T
ENST00000370225.3:c.4848+88C>T	ENSP00000359245.3:n.4848+88C>T
ENST00000460514.1:n.342+88C>T
ENST00000536513.5:c.1224+88C>T	ENSP00000439707.2:n.1224+88C>T
NM_000350.2:c.4848+88C>T	NP_000341.2:n.4848+88C>T
NM_000350.3:c.4848+88C>T MANE Select	NP_000341.2:n.4848+88C>T