Canonical Allele Identifier: CA367696935

Gene: KCTD7

Linked Data

• gnomAD v4: 7-66638964-C-A
• MyVariant Identifiers: chr7:g.66103951C>A (hg19) ; chr7:g.66638964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638964C>A , CM000669.2:g.66638964C>A	GRCh38
NC_000007.13:g.66103951C>A , CM000669.1:g.66103951C>A	GRCh37
NC_000007.12:g.65741386C>A	NCBI36
NG_028110.1:g.15084C>A
NG_028110.2:g.15084C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.562C>A	ENSP00000275532.4:p.Pro188Thr
ENST00000449064.6:c.505+35C>A
ENST00000503687.2:c.397+35C>A	ENSP00000421074.1:n.397+35C>A
ENST00000638524.1:c.427C>A
ENST00000638540.1:c.406C>A
ENST00000639828.2:c.602C>A MANE Select	ENSP00000492240.1:p.Pro201His
ENST00000639879.1:c.*465C>A	ENSP00000492161.1:n.*465C>A
ENST00000640234.1:c.437+35C>A
ENST00000640385.1:c.602C>A	ENSP00000491193.1:p.Pro201His
ENST00000640601.1:c.109C>A
ENST00000640851.1:c.567+35C>A	ENSP00000492577.1:n.567+35C>A
ENST00000275532.7:c.602C>A	ENSP00000275532.3:p.Pro201His
ENST00000443322.1:c.602C>A	ENSP00000411624.1:p.Pro201His
ENST00000503687.1:c.397+35C>A	ENSP00000421074.1:n.397+35C>A
NM_001167961.2:c.602C>A	NP_001161433.1:p.Pro201His
NM_153033.4:c.602C>A	NP_694578.1:p.Pro201His
NM_153033.5:c.602C>A MANE Select	NP_694578.1:p.Pro201His