Canonical Allele Identifier: CA378416240

Gene: CASP7

Linked Data

• dbSNP Id: rs11555408
• gnomAD v2: 10-115457264-T-C
• gnomAD v3: 10-113697505-T-C
• gnomAD v4: 10-113697505-T-C
• MyVariant Identifiers: chr10:g.115457264T>C (hg19) ; chr10:g.113697505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113697505T>C , CM000672.2:g.113697505T>C	GRCh38
NC_000010.10:g.115457264T>C , CM000672.1:g.115457264T>C	GRCh37
NC_000010.9:g.115447254T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369318.8:c.12T>C MANE Select	ENSP00000358324.4:p.Asp4=
ENST00000345633.8:c.12T>C	ENSP00000298701.7:p.Asp4=
ENST00000369315.5:c.12T>C	ENSP00000358321.1:p.Asp4=
ENST00000369318.7:c.12T>C	ENSP00000358324.3:p.Asp4=
ENST00000369321.6:c.236T>C	ENSP00000358327.3:p.Ile79Thr
ENST00000369331.8:c.12T>C	ENSP00000358337.3:p.Asp4=
ENST00000429617.5:c.12T>C	ENSP00000400094.1:p.Asp4=
ENST00000614447.4:c.12T>C	ENSP00000478285.1:p.Asp4=
ENST00000621345.4:c.12T>C	ENSP00000480584.1:p.Asp4=
ENST00000621607.4:c.111T>C	ENSP00000478999.1:p.Asp37=
NM_001227.4:c.12T>C	NP_001218.1:p.Asp4=
NM_001267056.1:c.12T>C	NP_001253985.1:p.Asp4=
NM_001267057.1:c.236T>C	NP_001253986.1:p.Ile79Thr
NM_033338.5:c.111T>C	NP_203124.1:p.Asp37=
NM_033339.4:c.12T>C	NP_203125.1:p.Asp4=
NM_033340.3:c.12T>C	NP_203126.1:p.Asp4=
XM_006718017.2:c.23T>C	XP_006718080.1:p.Ile8Thr
XM_006718018.1:c.5T>C	XP_006718081.1:p.Ile2Thr
XM_011540259.1:c.111T>C	XP_011538561.1:p.Asp37=
NM_001320911.1:c.5T>C	NP_001307840.1:p.Ile2Thr
XM_006718017.3:c.23T>C	XP_006718080.1:p.Ile8Thr
XM_017016763.1:c.69T>C	XP_016872252.1:p.Asp23=
XM_017016764.1:c.5T>C	XP_016872253.1:p.Ile2Thr
NM_001227.5:c.12T>C MANE Select	NP_001218.1:p.Asp4=
NM_001320911.2:c.5T>C	NP_001307840.1:p.Ile2Thr
NM_033338.6:c.111T>C	NP_203124.1:p.Asp37=
NM_033339.5:c.12T>C	NP_203125.1:p.Asp4=
NM_033340.4:c.12T>C	NP_203126.1:p.Asp4=
NM_001267056.2:c.12T>C	NP_001253985.1:p.Asp4=