Canonical Allele Identifier: CA26844128
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 917610
ClinVar RCV Id: RCV001174686 RCV001873649
dbSNP Id: rs946594091
gnomAD v2: 1-94522235-G-C
gnomAD v3: 1-94056679-G-C
gnomAD v4: 1-94056679-G-C
MyVariant Identifiers: chr1:g.94522235G>C (hg19) chr1:g.94056679G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056679G>C , CM000663.2:g.94056679G>C GRCh38
NC_000001.10:g.94522235G>C , CM000663.1:g.94522235G>C GRCh37
NC_000001.9:g.94294823G>C NCBI36
NG_009073.1:g.69471C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2304C>G MANE Select ENSP00000359245.3:p.Ile768Met
ENST00000649773.1:c.2161-1364C>G ENSP00000496882.1:n.2161-1364C>G
ENST00000370225.3:c.2304C>G ENSP00000359245.3:p.Ile768Met
ENST00000536513.5:c.-65+6495C>G ENSP00000439707.2:n.-65+6495C>G
NM_000350.2:c.2304C>G NP_000341.2:p.Ile768Met
NM_000350.3:c.2304C>G MANE Select NP_000341.2:p.Ile768Met
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