Canonical Allele Identifier: CA16001296
Gene: C1QTNF6 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.37195278G>A
GRCh37 chr22:g.37591318G>A
gnomAD v2:
22:37591318 G / A
gnomAD v3:
22:37195278 G / A
gnomAD v4:
chr22-37195278-G-A
Joint Max Group AF 0.66786337 (EAS)
Genomes Max Group AF 0.66786337 (EAS)
Exomes Max Group AF 0.17768 (AFR)
dbSNP:
229541
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37195278G>A , CM000684.2:g.37195278G>A GRCh38
NC_000022.10:g.37591318G>A , CM000684.1:g.37591318G>A GRCh37
NC_000022.9:g.35921264G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000467564.5:n.224+103C>T
ENST00000470655.5:n.2921+103C>T
ENST00000497071.1:n.433+103C>T
XM_006724125.2:c.-870C>T XP_006724188.1:n.-870C>T
XM_011529857.1:c.-71+103C>T XP_011528159.1:n.-71+103C>T
NM_001365878.1:c.-71+2325C>T NP_001352807.1:n.-71+2325C>T
XM_011529857.2:c.-71+103C>T XP_011528159.1:n.-71+103C>T
XM_024452150.1:c.-190+103C>T XP_024307918.1:n.-190+103C>T
XM_024452151.1:c.-190+103C>T XP_024307919.1:n.-190+103C>T
XM_024452152.1:c.-190+103C>T XP_024307920.1:n.-190+103C>T
XM_024452153.1:c.-190+103C>T XP_024307921.1:n.-190+103C>T
XM_024452154.1:c.-190+103C>T XP_024307922.1:n.-190+103C>T
XM_024452155.1:c.-247+103C>T XP_024307923.1:n.-247+103C>T
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