Canonical Allele Identifier: CA418826683

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94043358-A-G
• MyVariant Identifiers: chr1:g.94508914A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043358A>G , CM000663.2:g.94043358A>G	GRCh38
NC_000001.10:g.94508914A>G , CM000663.1:g.94508914A>G	GRCh37
NC_000001.9:g.94281502A>G	NCBI36
NG_009073.1:g.82792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3168T>C MANE Select	ENSP00000359245.3:p.Asn1056=
ENST00000370225.3:c.3168T>C	ENSP00000359245.3:p.Asn1056=
ENST00000536513.5:c.-64-3269T>C	ENSP00000439707.2:n.-64-3269T>C
NM_000350.2:c.3168T>C	NP_000341.2:p.Asn1056=
NM_000350.3:c.3168T>C MANE Select	NP_000341.2:p.Asn1056=