Canonical Allele Identifier: CA957445

Gene: ABCA4

Linked Data

• dbSNP Id: rs369888377
• ExAC: 1:94486988 G / C
• gnomAD v2: 1-94486988-G-C
• gnomAD v3: 1-94021432-G-C
• gnomAD v4: 1-94021432-G-C
• MyVariant Identifiers: chr1:g.94486988G>C (hg19) ; chr1:g.94021432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021432G>C , CM000663.2:g.94021432G>C	GRCh38
NC_000001.10:g.94486988G>C , CM000663.1:g.94486988G>C	GRCh37
NC_000001.9:g.94259576G>C	NCBI36
NG_009073.1:g.104718C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-23C>G MANE Select	ENSP00000359245.3:n.4849-23C>G
ENST00000370225.3:c.4849-23C>G	ENSP00000359245.3:n.4849-23C>G
ENST00000460514.1:n.343-23C>G
ENST00000536513.5:c.1225-23C>G	ENSP00000439707.2:n.1225-23C>G
NM_000350.2:c.4849-23C>G	NP_000341.2:n.4849-23C>G
NM_000350.3:c.4849-23C>G MANE Select	NP_000341.2:n.4849-23C>G