Canonical Allele Identifier: CA958907

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 1640616
• ClinVar RCV Id: RCV002139916
• dbSNP Id: rs373796884
• ExAC: 1:94577154 G / C
• gnomAD v2: 1-94577154-G-C
• gnomAD v3: 1-94111598-G-C
• gnomAD v4: 1-94111598-G-C
• MyVariant Identifiers: chr1:g.94577154G>C (hg19) ; chr1:g.94111598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111598G>C , CM000663.2:g.94111598G>C	GRCh38
NC_000001.10:g.94577154G>C , CM000663.1:g.94577154G>C	GRCh37
NC_000001.9:g.94349742G>C	NCBI36
NG_009073.1:g.14552C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-19C>G MANE Select	ENSP00000359245.3:n.161-19C>G
ENST00000649773.1:c.161-19C>G	ENSP00000496882.1:n.161-19C>G
ENST00000370225.3:c.161-19C>G	ENSP00000359245.3:n.161-19C>G
NM_000350.2:c.161-19C>G	NP_000341.2:n.161-19C>G
NM_000350.3:c.161-19C>G MANE Select	NP_000341.2:n.161-19C>G