Canonical Allele Identifier: CA341278926

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94060743-T-G
• MyVariant Identifiers: chr1:g.94526299T>G (hg19) ; chr1:g.94060743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060743T>G , CM000663.2:g.94060743T>G	GRCh38
NC_000001.10:g.94526299T>G , CM000663.1:g.94526299T>G	GRCh37
NC_000001.9:g.94298887T>G	NCBI36
NG_009073.1:g.65407A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1954A>C MANE Select	ENSP00000359245.3:p.Asn652His
ENST00000649773.1:c.1954A>C	ENSP00000496882.1:p.Asn652His
ENST00000370225.3:c.1954A>C	ENSP00000359245.3:p.Asn652His
ENST00000472033.1:n.74A>C
ENST00000536513.5:c.-65+2431A>C	ENSP00000439707.2:n.-65+2431A>C
NM_000350.2:c.1954A>C	NP_000341.2:p.Asn652His
NM_000350.3:c.1954A>C MANE Select	NP_000341.2:p.Asn652His