Canonical Allele Identifier: CA958911

Gene: ABCA4

Linked Data

• dbSNP Id: rs371120228
• ExAC: 1:94577178 G / C
• gnomAD v2: 1-94577178-G-C
• gnomAD v3: 1-94111622-G-C
• gnomAD v4: 1-94111622-G-C
• MyVariant Identifiers: chr1:g.94577178G>C (hg19) ; chr1:g.94111622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111622G>C , CM000663.2:g.94111622G>C	GRCh38
NC_000001.10:g.94577178G>C , CM000663.1:g.94577178G>C	GRCh37
NC_000001.9:g.94349766G>C	NCBI36
NG_009073.1:g.14528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-43C>G MANE Select	ENSP00000359245.3:n.161-43C>G
ENST00000649773.1:c.161-43C>G	ENSP00000496882.1:n.161-43C>G
ENST00000370225.3:c.161-43C>G	ENSP00000359245.3:n.161-43C>G
NM_000350.2:c.161-43C>G	NP_000341.2:n.161-43C>G
NM_000350.3:c.161-43C>G MANE Select	NP_000341.2:n.161-43C>G