Canonical Allele Identifier: CA116873339
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs993895033
gnomAD v3: 5-34008132-C-G
gnomAD v4: 5-34008132-C-G
MyVariant Identifiers: chr5:g.34008237C>G (hg19) chr5:g.34008132C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008132C>G , CM000667.2:g.34008132C>G GRCh38
NC_000005.9:g.34008237C>G , CM000667.1:g.34008237C>G GRCh37
NC_000005.8:g.34043994C>G NCBI36
NG_016211.1:g.4984G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2233G>C ENSP00000371511.3:n.690-2233G>C
NR_037951.1:n.765-2233G>C
Search 100 bp 5'
Search 100 bp 3'