Canonical Allele Identifier: CA341278234
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94467468C>A (hg19) chr1:g.94001912C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001912C>A , CM000663.2:g.94001912C>A GRCh38
NC_000001.10:g.94467468C>A , CM000663.1:g.94467468C>A GRCh37
NC_000001.9:g.94240056C>A NCBI36
NG_009073.1:g.124238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6228G>T MANE Select ENSP00000359245.3:p.Lys2076Asn
ENST00000370225.3:c.6228G>T ENSP00000359245.3:p.Lys2076Asn
ENST00000465352.1:n.644G>T
ENST00000536513.5:c.2604G>T ENSP00000439707.2:p.Lys868Asn
NM_000350.2:c.6228G>T NP_000341.2:p.Lys2076Asn
NM_000350.3:c.6228G>T MANE Select NP_000341.2:p.Lys2076Asn
Search 100 bp 5'
Search 100 bp 3'