Canonical Allele Identifier: CA418825931
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1939824
ClinVar RCV Id: RCV002667008
dbSNP Id: rs1311371515
gnomAD v2: 1-94577110-G-C
gnomAD v3: 1-94111554-G-C
gnomAD v4: 1-94111554-G-C
MyVariant Identifiers: chr1:g.94577110G>C (hg19) chr1:g.94111554G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111554G>C , CM000663.2:g.94111554G>C GRCh38
NC_000001.10:g.94577110G>C , CM000663.1:g.94577110G>C GRCh37
NC_000001.9:g.94349698G>C NCBI36
NG_009073.1:g.14596C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.186C>G MANE Select ENSP00000359245.3:p.Pro62=
ENST00000649773.1:c.186C>G ENSP00000496882.1:p.Pro62=
ENST00000370225.3:c.186C>G ENSP00000359245.3:p.Pro62=
NM_000350.2:c.186C>G NP_000341.2:p.Pro62=
NM_000350.3:c.186C>G MANE Select NP_000341.2:p.Pro62=
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