Canonical Allele Identifier: CA341278310

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94001949-G-T
• MyVariant Identifiers: chr1:g.94467505G>T (hg19) ; chr1:g.94001949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001949G>T , CM000663.2:g.94001949G>T	GRCh38
NC_000001.10:g.94467505G>T , CM000663.1:g.94467505G>T	GRCh37
NC_000001.9:g.94240093G>T	NCBI36
NG_009073.1:g.124201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6191C>A MANE Select	ENSP00000359245.3:p.Ala2064Asp
ENST00000370225.3:c.6191C>A	ENSP00000359245.3:p.Ala2064Asp
ENST00000465352.1:n.607C>A
ENST00000536513.5:c.2567C>A	ENSP00000439707.2:p.Ala856Asp
NM_000350.2:c.6191C>A	NP_000341.2:p.Ala2064Asp
NM_000350.3:c.6191C>A MANE Select	NP_000341.2:p.Ala2064Asp