Canonical Allele Identifier: CA10217017

Gene: C1QTNF6

Linked Data

• ClinVar Variation Id: 2225782
• ClinVar RCV Id: RCV002688243
• dbSNP Id: rs112360472
• ExAC: 22:37581433 C / A
• gnomAD v2: 22-37581433-C-A
• gnomAD v3: 22-37185393-C-A
• gnomAD v4: 22-37185393-C-A
• MyVariant Identifiers: chr22:g.37581433C>A (hg19) ; chr22:g.37185393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37185393C>A , CM000684.2:g.37185393C>A	GRCh38
NC_000022.10:g.37581433C>A , CM000684.1:g.37581433C>A	GRCh37
NC_000022.9:g.35911379C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337843.7:c.114G>T MANE Select	ENSP00000338812.2:p.Met38Ile
ENST00000337843.6:c.114G>T	ENSP00000338812.2:p.Met38Ile
ENST00000397110.6:c.114G>T	ENSP00000380299.2:p.Met38Ile
ENST00000434784.1:c.114G>T	ENSP00000399243.1:p.Met38Ile
ENST00000470655.5:n.3604G>T
ENST00000493023.1:n.556G>T
NM_031910.3:c.114G>T	NP_114116.3:p.Met38Ile
NM_182486.1:c.114G>T	NP_872292.1:p.Met38Ile
XM_006724125.2:c.57G>T	XP_006724188.1:p.Met19Ile
XM_011529857.1:c.57G>T	XP_011528159.1:p.Met19Ile
NM_001365878.1:c.57G>T	NP_001352807.1:p.Met19Ile
XM_011529857.2:c.57G>T	XP_011528159.1:p.Met19Ile
XM_017028569.1:c.114G>T	XP_016884058.1:p.Met38Ile
XM_024452150.1:c.114G>T	XP_024307918.1:p.Met38Ile
XM_024452151.1:c.114G>T	XP_024307919.1:p.Met38Ile
XM_024452152.1:c.114G>T	XP_024307920.1:p.Met38Ile
XM_024452153.1:c.114G>T	XP_024307921.1:p.Met38Ile
XM_024452154.1:c.114G>T	XP_024307922.1:p.Met38Ile
XM_024452155.1:c.57G>T	XP_024307923.1:p.Met19Ile
NM_031910.4:c.114G>T MANE Select	NP_114116.3:p.Met38Ile
NM_182486.2:c.114G>T	NP_872292.1:p.Met38Ile