Canonical Allele Identifier: CA367696581

Gene: KCTD7

Linked Data

• dbSNP Id: rs1377240768
• gnomAD v3: 7-66638857-C-T
• gnomAD v4: 7-66638857-C-T
• MyVariant Identifiers: chr7:g.66103844C>T (hg19) ; chr7:g.66638857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638857C>T , CM000669.2:g.66638857C>T	GRCh38
NC_000007.13:g.66103844C>T , CM000669.1:g.66103844C>T	GRCh37
NC_000007.12:g.65741279C>T	NCBI36
NG_028110.1:g.14977C>T
NG_028110.2:g.14977C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000275532.8:c.455C>T	ENSP00000275532.4:p.Thr152Ile
ENST00000449064.6:c.433C>T
ENST00000503687.2:c.325C>T	ENSP00000421074.1:p.Pro109Ser
ENST00000638524.1:c.320C>T
ENST00000638540.1:c.299C>T
ENST00000639828.2:c.495C>T MANE Select	ENSP00000492240.1:p.Asp165=
ENST00000639879.1:c.*358C>T	ENSP00000492161.1:n.*358C>T
ENST00000640234.1:c.365C>T
ENST00000640385.1:c.495C>T	ENSP00000491193.1:p.Asp165=
ENST00000640601.1:c.2C>T
ENST00000640851.1:c.495C>T	ENSP00000492577.1:p.Asp165=
ENST00000275532.7:c.495C>T	ENSP00000275532.3:p.Asp165=
ENST00000443322.1:c.495C>T	ENSP00000411624.1:p.Asp165=
ENST00000449064.5:c.325C>T	ENSP00000388463.1:p.Pro109Ser
ENST00000503687.1:c.325C>T	ENSP00000421074.1:p.Pro109Ser
NM_001167961.2:c.495C>T	NP_001161433.1:p.Asp165=
NM_153033.4:c.495C>T	NP_694578.1:p.Asp165=
NM_153033.5:c.495C>T MANE Select	NP_694578.1:p.Asp165=