Canonical Allele Identifier: CA116873406
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs563127635
gnomAD v2: 5-34008269-G-C
gnomAD v3: 5-34008164-G-C
gnomAD v4: 5-34008164-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008164G>C , CM000667.2:g.34008164G>C GRCh38
NC_000005.9:g.34008269G>C , CM000667.1:g.34008269G>C GRCh37
NC_000005.8:g.34044026G>C NCBI36
NG_016211.1:g.4952C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2265C>G ENSP00000371511.3:n.690-2265C>G
NR_037951.1:n.765-2265C>G