Canonical Allele Identifier: CA456057353

Gene: KCTD7

Linked Data

• dbSNP Id: rs750811871
• gnomAD v4: 7-66638993-C-A
• MyVariant Identifiers: chr7:g.66103980C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638993C>A , CM000669.2:g.66638993C>A	GRCh38
NC_000007.13:g.66103980C>A , CM000669.1:g.66103980C>A	GRCh37
NC_000007.12:g.65741415C>A	NCBI36
NG_028110.1:g.15113C>A
NG_028110.2:g.15113C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000275532.8:c.591C>A	ENSP00000275532.4:p.Cys197Ter
ENST00000449064.6:c.505+64C>A
ENST00000503687.2:c.397+64C>A	ENSP00000421074.1:n.397+64C>A
ENST00000638524.1:c.456C>A
ENST00000638540.1:c.435C>A
ENST00000639828.2:c.631C>A MANE Select	ENSP00000492240.1:p.Arg211=
ENST00000639879.1:c.*494C>A	ENSP00000492161.1:n.*494C>A
ENST00000640234.1:c.437+64C>A
ENST00000640385.1:c.631C>A	ENSP00000491193.1:p.Arg211=
ENST00000640601.1:c.138C>A
ENST00000640851.1:c.567+64C>A	ENSP00000492577.1:n.567+64C>A
ENST00000275532.7:c.631C>A	ENSP00000275532.3:p.Arg211=
ENST00000443322.1:c.631C>A	ENSP00000411624.1:p.Arg211=
ENST00000503687.1:c.397+64C>A	ENSP00000421074.1:n.397+64C>A
NM_001167961.2:c.631C>A	NP_001161433.1:p.Arg211=
NM_153033.4:c.631C>A	NP_694578.1:p.Arg211=
NM_153033.5:c.631C>A MANE Select	NP_694578.1:p.Arg211=