Canonical Allele Identifier: CA1004570004
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659048902
gnomAD v3: 1-93997792-A-C
gnomAD v4: 1-93997792-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997792A>C , CM000663.2:g.93997792A>C GRCh38
NC_000001.10:g.94463348A>C , CM000663.1:g.94463348A>C GRCh37
NC_000001.9:g.94235936A>C NCBI36
NG_009073.1:g.128358T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+69T>G MANE Select ENSP00000359245.3:n.6729+69T>G
ENST00000370225.3:c.6729+69T>G ENSP00000359245.3:n.6729+69T>G
ENST00000536513.5:c.3105+69T>G ENSP00000439707.2:n.3105+69T>G
NM_000350.2:c.6729+69T>G NP_000341.2:n.6729+69T>G
NM_000350.3:c.6729+69T>G MANE Select NP_000341.2:n.6729+69T>G
Search 100 bp 5'
Search 100 bp 3'