Canonical Allele Identifier: CA1181395458
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659065632
gnomAD v4: 1-93998181-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998181G>C , CM000663.2:g.93998181G>C GRCh38
NC_000001.10:g.94463737G>C , CM000663.1:g.94463737G>C GRCh37
NC_000001.9:g.94236325G>C NCBI36
NG_009073.1:g.127969C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6480-71C>G MANE Select ENSP00000359245.3:n.6480-71C>G
ENST00000370225.3:c.6480-71C>G ENSP00000359245.3:n.6480-71C>G
ENST00000536513.5:c.2856-71C>G ENSP00000439707.2:n.2856-71C>G
NM_000350.2:c.6480-71C>G NP_000341.2:n.6480-71C>G
NM_000350.3:c.6480-71C>G MANE Select NP_000341.2:n.6480-71C>G
Search 100 bp 5'
Search 100 bp 3'