Canonical Allele Identifier: CA315672

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 206004
• ClinVar RCV Id: RCV000188011 ; RCV000545317
• dbSNP Id: rs796052686
• gnomAD v2: 7-66103381-G-A
• gnomAD v4: 7-66638394-G-A
• MyVariant Identifiers: chr7:g.66103381G>A (hg19) ; chr7:g.66638394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638394G>A , CM000669.2:g.66638394G>A	GRCh38
NC_000007.13:g.66103381G>A , CM000669.1:g.66103381G>A	GRCh37
NC_000007.12:g.65740816G>A	NCBI36
NG_028110.1:g.14514G>A
NG_028110.2:g.14514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.453+3G>A	ENSP00000275532.4:n.453+3G>A
ENST00000449064.6:c.431+3G>A
ENST00000503687.2:c.286G>A	ENSP00000421074.1:p.Ala96Thr
ENST00000638524.1:c.281G>A
ENST00000638540.1:c.260G>A
ENST00000639828.2:c.456G>A MANE Select	ENSP00000492240.1:p.Val152=
ENST00000639879.1:c.456G>A	ENSP00000492161.1:p.Val152=
ENST00000640234.1:c.326G>A
ENST00000640385.1:c.456G>A	ENSP00000491193.1:p.Val152=
ENST00000640851.1:c.456G>A	ENSP00000492577.1:p.Val152=
ENST00000275532.7:c.456G>A	ENSP00000275532.3:p.Val152=
ENST00000443322.1:c.456G>A	ENSP00000411624.1:p.Val152=
ENST00000449064.5:c.286G>A	ENSP00000388463.1:p.Ala96Thr
ENST00000503687.1:c.286G>A	ENSP00000421074.1:p.Ala96Thr
NM_001167961.2:c.456G>A	NP_001161433.1:p.Val152=
NM_153033.4:c.456G>A	NP_694578.1:p.Val152=
NM_153033.5:c.456G>A MANE Select	NP_694578.1:p.Val152=