Canonical Allele Identifier: CA956806
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs7518454
ExAC: 1:94463366 G / T
gnomAD v2: 1-94463366-G-T
gnomAD v4: 1-93997810-G-T
MyVariant Identifiers: chr1:g.94463366G>T (hg19) chr1:g.93997810G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997810G>T , CM000663.2:g.93997810G>T GRCh38
NC_000001.10:g.94463366G>T , CM000663.1:g.94463366G>T GRCh37
NC_000001.9:g.94235954G>T NCBI36
NG_009073.1:g.128340C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+51C>A MANE Select ENSP00000359245.3:n.6729+51C>A
ENST00000370225.3:c.6729+51C>A ENSP00000359245.3:n.6729+51C>A
ENST00000536513.5:c.3105+51C>A ENSP00000439707.2:n.3105+51C>A
NM_000350.2:c.6729+51C>A NP_000341.2:n.6729+51C>A
NM_000350.3:c.6729+51C>A MANE Select NP_000341.2:n.6729+51C>A
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