Canonical Allele Identifier: CA956808
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs761879403
ExAC: 1:94463369 T / G
gnomAD v2: 1-94463369-T-G
gnomAD v4: 1-93997813-T-G
MyVariant Identifiers: chr1:g.94463369T>G (hg19) chr1:g.93997813T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997813T>G , CM000663.2:g.93997813T>G GRCh38
NC_000001.10:g.94463369T>G , CM000663.1:g.94463369T>G GRCh37
NC_000001.9:g.94235957T>G NCBI36
NG_009073.1:g.128337A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+48A>C MANE Select ENSP00000359245.3:n.6729+48A>C
ENST00000370225.3:c.6729+48A>C ENSP00000359245.3:n.6729+48A>C
ENST00000536513.5:c.3105+48A>C ENSP00000439707.2:n.3105+48A>C
NM_000350.2:c.6729+48A>C NP_000341.2:n.6729+48A>C
NM_000350.3:c.6729+48A>C MANE Select NP_000341.2:n.6729+48A>C
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