Allele Registry

Canonical Allele Identifier: CA185712934

Gene: CASC19 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr8:g.127196124A>G

GRCh37 chr8:g.128208369A>G

Linked Data - Sequence & Population

gnomAD v2:

8:128208369 A / G

gnomAD v3:

8:127196124 A / G

gnomAD v4:

chr8-127196124-A-G

Joint Max Group AF 0.00530437 (NFE)

Genomes Max Group AF 0.00530437 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001257965

ClinVar Variation:

979042

dbSNP:

138042437

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127196124A>G , CM000670.2:g.127196124A>G	GRCh38
NC_000008.10:g.128208369A>G , CM000670.1:g.128208369A>G	GRCh37
NC_000008.9:g.128277551A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_120364.1:n.153+1351T>C

Search 100 bp 5'

Search 100 bp 3'