Canonical Allele Identifier: CA2646653652
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94111636-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111636C>G , CM000663.2:g.94111636C>G GRCh38
NC_000001.10:g.94577192C>G , CM000663.1:g.94577192C>G GRCh37
NC_000001.9:g.94349780C>G NCBI36
NG_009073.1:g.14514G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-57G>C MANE Select ENSP00000359245.3:n.161-57G>C
ENST00000649773.1:c.161-57G>C ENSP00000496882.1:n.161-57G>C
ENST00000370225.3:c.161-57G>C ENSP00000359245.3:n.161-57G>C
NM_000350.2:c.161-57G>C NP_000341.2:n.161-57G>C
NM_000350.3:c.161-57G>C MANE Select NP_000341.2:n.161-57G>C
Search 100 bp 5'
Search 100 bp 3'