Canonical Allele Identifier: CA116873289
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1011565584
gnomAD v2: 5-34008221-C-A
gnomAD v3: 5-34008116-C-A
gnomAD v4: 5-34008116-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008116C>A , CM000667.2:g.34008116C>A GRCh38
NC_000005.9:g.34008221C>A , CM000667.1:g.34008221C>A GRCh37
NC_000005.8:g.34043978C>A NCBI36
NG_016211.1:g.5000G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2217G>T ENSP00000371511.3:n.690-2217G>T
NR_037951.1:n.765-2217G>T