Canonical Allele Identifier: CA956809
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs767554473
ExAC: 1:94463372 T / C
gnomAD v2: 1-94463372-T-C
gnomAD v4: 1-93997816-T-C
MyVariant Identifiers: chr1:g.94463372T>C (hg19) chr1:g.93997816T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997816T>C , CM000663.2:g.93997816T>C GRCh38
NC_000001.10:g.94463372T>C , CM000663.1:g.94463372T>C GRCh37
NC_000001.9:g.94235960T>C NCBI36
NG_009073.1:g.128334A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+45A>G MANE Select ENSP00000359245.3:n.6729+45A>G
ENST00000370225.3:c.6729+45A>G ENSP00000359245.3:n.6729+45A>G
ENST00000536513.5:c.3105+45A>G ENSP00000439707.2:n.3105+45A>G
NM_000350.2:c.6729+45A>G NP_000341.2:n.6729+45A>G
NM_000350.3:c.6729+45A>G MANE Select NP_000341.2:n.6729+45A>G
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