Canonical Allele Identifier: CA524697310
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs755019908
gnomAD v2: 1-94463389-A-G
gnomAD v4: 1-93997833-A-G
MyVariant Identifiers: chr1:g.94463389A>G (hg19) chr1:g.93997833A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997833A>G , CM000663.2:g.93997833A>G GRCh38
NC_000001.10:g.94463389A>G , CM000663.1:g.94463389A>G GRCh37
NC_000001.9:g.94235977A>G NCBI36
NG_009073.1:g.128317T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+28T>C MANE Select ENSP00000359245.3:n.6729+28T>C
ENST00000370225.3:c.6729+28T>C ENSP00000359245.3:n.6729+28T>C
ENST00000536513.5:c.3105+28T>C ENSP00000439707.2:n.3105+28T>C
NM_000350.2:c.6729+28T>C NP_000341.2:n.6729+28T>C
NM_000350.3:c.6729+28T>C MANE Select NP_000341.2:n.6729+28T>C
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