Canonical Allele Identifier: CA740489567
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1175926196
gnomAD v3: 1-94111802-G-A
gnomAD v4: 1-94111802-G-A
MyVariant Identifiers: chr1:g.94577358G>A (hg19) chr1:g.94111802G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111802G>A , CM000663.2:g.94111802G>A GRCh38
NC_000001.10:g.94577358G>A , CM000663.1:g.94577358G>A GRCh37
NC_000001.9:g.94349946G>A NCBI36
NG_009073.1:g.14348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-223C>T MANE Select ENSP00000359245.3:n.161-223C>T
ENST00000649773.1:c.161-223C>T ENSP00000496882.1:n.161-223C>T
ENST00000370225.3:c.161-223C>T ENSP00000359245.3:n.161-223C>T
NM_000350.2:c.161-223C>T NP_000341.2:n.161-223C>T
NM_000350.3:c.161-223C>T MANE Select NP_000341.2:n.161-223C>T
Search 100 bp 5'
Search 100 bp 3'