Canonical Allele Identifier: CA367695466

Gene: KCTD7

Linked Data

• gnomAD v4: 7-66633291-C-A
• MyVariant Identifiers: chr7:g.66098278C>A (hg19) ; chr7:g.66633291C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633291C>A , CM000669.2:g.66633291C>A	GRCh38
NC_000007.13:g.66098278C>A , CM000669.1:g.66098278C>A	GRCh37
NC_000007.12:g.65735713C>A	NCBI36
NG_028110.1:g.9411C>A
NG_028110.2:g.9411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.161C>A	ENSP00000275532.4:p.Pro54His
ENST00000449064.6:c.139C>A
ENST00000503687.2:c.144+4083C>A	ENSP00000421074.1:n.144+4083C>A
ENST00000638524.1:c.139+4083C>A
ENST00000638540.1:c.118+4083C>A
ENST00000639828.2:c.161C>A MANE Select	ENSP00000492240.1:p.Pro54His
ENST00000639879.1:c.161C>A	ENSP00000492161.1:p.Pro54His
ENST00000640234.1:c.31C>A
ENST00000640385.1:c.161C>A	ENSP00000491193.1:p.Pro54His
ENST00000640851.1:c.161C>A	ENSP00000492577.1:p.Pro54His
ENST00000275532.7:c.161C>A	ENSP00000275532.3:p.Pro54His
ENST00000443322.1:c.161C>A	ENSP00000411624.1:p.Pro54His
ENST00000449064.5:c.144+4083C>A	ENSP00000388463.1:n.144+4083C>A
ENST00000503687.1:c.144+4083C>A	ENSP00000421074.1:n.144+4083C>A
NM_001167961.2:c.161C>A	NP_001161433.1:p.Pro54His
NM_153033.4:c.161C>A	NP_694578.1:p.Pro54His
NM_153033.5:c.161C>A MANE Select	NP_694578.1:p.Pro54His