Canonical Allele Identifier: CA341278391

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94001986-T-A
• MyVariant Identifiers: chr1:g.94467542T>A (hg19) ; chr1:g.94001986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001986T>A , CM000663.2:g.94001986T>A	GRCh38
NC_000001.10:g.94467542T>A , CM000663.1:g.94467542T>A	GRCh37
NC_000001.9:g.94240130T>A	NCBI36
NG_009073.1:g.124164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6154A>T MANE Select	ENSP00000359245.3:p.Asn2052Tyr
ENST00000370225.3:c.6154A>T	ENSP00000359245.3:p.Asn2052Tyr
ENST00000465352.1:n.570A>T
ENST00000536513.5:c.2530A>T	ENSP00000439707.2:p.Asn844Tyr
NM_000350.2:c.6154A>T	NP_000341.2:p.Asn2052Tyr
NM_000350.3:c.6154A>T MANE Select	NP_000341.2:p.Asn2052Tyr