Canonical Allele Identifier: CA957454

Gene: ABCA4

Linked Data

• dbSNP Id: rs200651572
• ExAC: 1:94487154 T / C
• gnomAD v2: 1-94487154-T-C
• gnomAD v3: 1-94021598-T-C
• gnomAD v4: 1-94021598-T-C
• MyVariant Identifiers: chr1:g.94487154T>C (hg19) ; chr1:g.94021598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021598T>C , CM000663.2:g.94021598T>C	GRCh38
NC_000001.10:g.94487154T>C , CM000663.1:g.94487154T>C	GRCh37
NC_000001.9:g.94259742T>C	NCBI36
NG_009073.1:g.104552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4848+42A>G MANE Select	ENSP00000359245.3:n.4848+42A>G
ENST00000370225.3:c.4848+42A>G	ENSP00000359245.3:n.4848+42A>G
ENST00000460514.1:n.342+42A>G
ENST00000536513.5:c.1224+42A>G	ENSP00000439707.2:n.1224+42A>G
NM_000350.2:c.4848+42A>G	NP_000341.2:n.4848+42A>G
NM_000350.3:c.4848+42A>G MANE Select	NP_000341.2:n.4848+42A>G