Canonical Allele Identifier: CA956816
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs758628960
ExAC: 1:94463393 C / G
gnomAD v2: 1-94463393-C-G
gnomAD v4: 1-93997837-C-G
MyVariant Identifiers: chr1:g.94463393C>G (hg19) chr1:g.93997837C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997837C>G , CM000663.2:g.93997837C>G GRCh38
NC_000001.10:g.94463393C>G , CM000663.1:g.94463393C>G GRCh37
NC_000001.9:g.94235981C>G NCBI36
NG_009073.1:g.128313G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+24G>C MANE Select ENSP00000359245.3:n.6729+24G>C
ENST00000370225.3:c.6729+24G>C ENSP00000359245.3:n.6729+24G>C
ENST00000536513.5:c.3105+24G>C ENSP00000439707.2:n.3105+24G>C
NM_000350.2:c.6729+24G>C NP_000341.2:n.6729+24G>C
NM_000350.3:c.6729+24G>C MANE Select NP_000341.2:n.6729+24G>C
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