Canonical Allele Identifier: CA10643245
Gene: ABCA17P HGNC NCBI
ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 318606
ClinVar RCV Id: RCV000362600
dbSNP Id: rs45583636
gnomAD v2: 16-2390746-G-C
gnomAD v3: 16-2340745-G-C
gnomAD v4: 16-2340745-G-C
MyVariant Identifiers: chr16:g.2390746G>C (hg19) chr16:g.2340745G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340745G>C , CM000678.2:g.2340745G>C GRCh38
NC_000016.9:g.2390746G>C , CM000678.1:g.2390746G>C GRCh37
NC_000016.8:g.2330747G>C NCBI36
NG_011790.1:g.5002C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1414G>C (ABCA17P)
ENST00000382381.7:c.-711C>G (ABCA3) ENSP00000371818.3:n.-711C>G
ENST00000512848.5:n.182+1414G>C (ABCA17P)
NM_001089.2:c.-711C>G (ABCA3) NP_001080.2:n.-711C>G
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