Canonical Allele Identifier: CA958344
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs768056773
ExAC: 1:94526098 T / G
gnomAD v2: 1-94526098-T-G
gnomAD v4: 1-94060542-T-G
MyVariant Identifiers: chr1:g.94526098T>G (hg19) chr1:g.94060542T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060542T>G , CM000663.2:g.94060542T>G GRCh38
NC_000001.10:g.94526098T>G , CM000663.1:g.94526098T>G GRCh37
NC_000001.9:g.94298686T>G NCBI36
NG_009073.1:g.65608A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2155A>C MANE Select ENSP00000359245.3:p.Ile719Leu
ENST00000649773.1:c.2155A>C ENSP00000496882.1:p.Ile719Leu
ENST00000370225.3:c.2155A>C ENSP00000359245.3:p.Ile719Leu
ENST00000472033.1:n.275A>C
ENST00000536513.5:c.-65+2632A>C ENSP00000439707.2:n.-65+2632A>C
NM_000350.2:c.2155A>C NP_000341.2:p.Ile719Leu
NM_000350.3:c.2155A>C MANE Select NP_000341.2:p.Ile719Leu
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