Canonical Allele Identifier: CA1538249962
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1754064618
gnomAD v4: 5-34008147-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008147C>T , CM000667.2:g.34008147C>T GRCh38
NC_000005.9:g.34008252C>T , CM000667.1:g.34008252C>T GRCh37
NC_000005.8:g.34044009C>T NCBI36
NG_016211.1:g.4969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2248G>A ENSP00000371511.3:n.690-2248G>A
NR_037951.1:n.765-2248G>A