Canonical Allele Identifier: CA10611611

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298216
• ClinVar RCV Id: RCV000261694 ; RCV000283953 ; RCV000319142 ; RCV000376091 ; RCV001096126
• dbSNP Id: rs538804441
• gnomAD v2: 1-94458494-C-G
• gnomAD v3: 1-93992938-C-G
• gnomAD v4: 1-93992938-C-G
• MyVariant Identifiers: chr1:g.94458494C>G (hg19) ; chr1:g.93992938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93992938C>G , CM000663.2:g.93992938C>G	GRCh38
NC_000001.10:g.94458494C>G , CM000663.1:g.94458494C>G	GRCh37
NC_000001.9:g.94231082C>G	NCBI36
NG_009073.1:g.133212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.*299G>C MANE Select	ENSP00000359245.3:n.*299G>C
ENST00000370225.3:c.*299G>C	ENSP00000359245.3:n.*299G>C
ENST00000536513.5:c.*299G>C	ENSP00000439707.2:n.*299G>C
NM_000350.2:c.*299G>C	NP_000341.2:n.*299G>C
NM_000350.3:c.*299G>C MANE Select	NP_000341.2:n.*299G>C