Canonical Allele Identifier: CA558971243
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1325063773
gnomAD v2: 5-34008235-C-T
gnomAD v3: 5-34008130-C-T
gnomAD v4: 5-34008130-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008130C>T , CM000667.2:g.34008130C>T GRCh38
NC_000005.9:g.34008235C>T , CM000667.1:g.34008235C>T GRCh37
NC_000005.8:g.34043992C>T NCBI36
NG_016211.1:g.4986G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2231G>A ENSP00000371511.3:n.690-2231G>A
NR_037951.1:n.765-2231G>A