Canonical Allele Identifier: CA367696942

Gene: KCTD7

Linked Data

• MyVariant Identifiers: chr7:g.66103953T>C (hg19) ; chr7:g.66638966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638966T>C , CM000669.2:g.66638966T>C	GRCh38
NC_000007.13:g.66103953T>C , CM000669.1:g.66103953T>C	GRCh37
NC_000007.12:g.65741388T>C	NCBI36
NG_028110.1:g.15086T>C
NG_028110.2:g.15086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.564T>C	ENSP00000275532.4:p.Pro188=
ENST00000449064.6:c.505+37T>C
ENST00000503687.2:c.397+37T>C	ENSP00000421074.1:n.397+37T>C
ENST00000638524.1:c.429T>C
ENST00000638540.1:c.408T>C
ENST00000639828.2:c.604T>C MANE Select	ENSP00000492240.1:p.Tyr202His
ENST00000639879.1:c.*467T>C	ENSP00000492161.1:n.*467T>C
ENST00000640234.1:c.437+37T>C
ENST00000640385.1:c.604T>C	ENSP00000491193.1:p.Tyr202His
ENST00000640601.1:c.111T>C
ENST00000640851.1:c.567+37T>C	ENSP00000492577.1:n.567+37T>C
ENST00000275532.7:c.604T>C	ENSP00000275532.3:p.Tyr202His
ENST00000443322.1:c.604T>C	ENSP00000411624.1:p.Tyr202His
ENST00000503687.1:c.397+37T>C	ENSP00000421074.1:n.397+37T>C
NM_001167961.2:c.604T>C	NP_001161433.1:p.Tyr202His
NM_153033.4:c.604T>C	NP_694578.1:p.Tyr202His
NM_153033.5:c.604T>C MANE Select	NP_694578.1:p.Tyr202His