Canonical Allele Identifier: CA116873340
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs893249754
gnomAD v3: 5-34008141-C-A
gnomAD v4: 5-34008141-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008141C>A , CM000667.2:g.34008141C>A GRCh38
NC_000005.9:g.34008246C>A , CM000667.1:g.34008246C>A GRCh37
NC_000005.8:g.34044003C>A NCBI36
NG_016211.1:g.4975G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2242G>T ENSP00000371511.3:n.690-2242G>T
NR_037951.1:n.765-2242G>T