Canonical Allele Identifier: CA116873415
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs955311457
gnomAD v3: 5-34008165-G-A
gnomAD v4: 5-34008165-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008165G>A , CM000667.2:g.34008165G>A GRCh38
NC_000005.9:g.34008270G>A , CM000667.1:g.34008270G>A GRCh37
NC_000005.8:g.34044027G>A NCBI36
NG_016211.1:g.4951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2266C>T ENSP00000371511.3:n.690-2266C>T
NR_037951.1:n.765-2266C>T