Canonical Allele Identifier: CA367696594

Gene: KCTD7

Linked Data

• MyVariant Identifiers: chr7:g.66103849T>C (hg19) ; chr7:g.66638862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638862T>C , CM000669.2:g.66638862T>C	GRCh38
NC_000007.13:g.66103849T>C , CM000669.1:g.66103849T>C	GRCh37
NC_000007.12:g.65741284T>C	NCBI36
NG_028110.1:g.14982T>C
NG_028110.2:g.14982T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.460T>C	ENSP00000275532.4:p.Trp154Arg
ENST00000449064.6:c.438T>C
ENST00000503687.2:c.330T>C	ENSP00000421074.1:p.Leu110=
ENST00000638524.1:c.325T>C
ENST00000638540.1:c.304T>C
ENST00000639828.2:c.500T>C MANE Select	ENSP00000492240.1:p.Leu167Ser
ENST00000639879.1:c.*363T>C	ENSP00000492161.1:n.*363T>C
ENST00000640234.1:c.370T>C
ENST00000640385.1:c.500T>C	ENSP00000491193.1:p.Leu167Ser
ENST00000640601.1:c.7T>C
ENST00000640851.1:c.500T>C	ENSP00000492577.1:p.Leu167Ser
ENST00000275532.7:c.500T>C	ENSP00000275532.3:p.Leu167Ser
ENST00000443322.1:c.500T>C	ENSP00000411624.1:p.Leu167Ser
ENST00000449064.5:c.330T>C	ENSP00000388463.1:p.Leu110=
ENST00000503687.1:c.330T>C	ENSP00000421074.1:p.Leu110=
NM_001167961.2:c.500T>C	NP_001161433.1:p.Leu167Ser
NM_153033.4:c.500T>C	NP_694578.1:p.Leu167Ser
NM_153033.5:c.500T>C MANE Select	NP_694578.1:p.Leu167Ser