Canonical Allele Identifier: CA1074912621
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v3: 5-34008145-A-G
gnomAD v4: 5-34008145-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008145A>G , CM000667.2:g.34008145A>G GRCh38
NC_000005.9:g.34008250A>G , CM000667.1:g.34008250A>G GRCh37
NC_000005.8:g.34044007A>G NCBI36
NG_016211.1:g.4971T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2246T>C ENSP00000371511.3:n.690-2246T>C
NR_037951.1:n.765-2246T>C