Canonical Allele Identifier: CA2610963523

Gene: CASP7

Linked Data

• gnomAD v4: 10-113697659-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113697659T>C , CM000672.2:g.113697659T>C	GRCh38
NC_000010.10:g.115457418T>C , CM000672.1:g.115457418T>C	GRCh37
NC_000010.9:g.115447408T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369318.8:c.110+56T>C MANE Select	ENSP00000358324.4:n.110+56T>C
ENST00000345633.8:c.110+56T>C	ENSP00000298701.7:n.110+56T>C
ENST00000369315.5:c.110+56T>C	ENSP00000358321.1:n.110+56T>C
ENST00000369318.7:c.110+56T>C	ENSP00000358324.3:n.110+56T>C
ENST00000369321.6:c.334+56T>C	ENSP00000358327.3:n.334+56T>C
ENST00000369331.8:c.110+56T>C	ENSP00000358337.3:n.110+56T>C
ENST00000429617.5:c.110+56T>C	ENSP00000400094.1:n.110+56T>C
ENST00000614447.4:c.110+56T>C	ENSP00000478285.1:n.110+56T>C
ENST00000621345.4:c.110+56T>C	ENSP00000480584.1:n.110+56T>C
ENST00000621607.4:c.209+56T>C	ENSP00000478999.1:n.209+56T>C
NM_001227.4:c.110+56T>C	NP_001218.1:n.110+56T>C
NM_001267056.1:c.110+56T>C	NP_001253985.1:n.110+56T>C
NM_001267057.1:c.334+56T>C	NP_001253986.1:n.334+56T>C
NM_033338.5:c.209+56T>C	NP_203124.1:n.209+56T>C
NM_033339.4:c.110+56T>C	NP_203125.1:n.110+56T>C
NM_033340.3:c.110+56T>C	NP_203126.1:n.110+56T>C
XM_006718017.2:c.121+56T>C	XP_006718080.1:n.121+56T>C
XM_006718018.1:c.103+56T>C	XP_006718081.1:n.103+56T>C
XM_011540259.1:c.209+56T>C	XP_011538561.1:n.209+56T>C
NM_001320911.1:c.103+56T>C	NP_001307840.1:n.103+56T>C
XM_006718017.3:c.121+56T>C	XP_006718080.1:n.121+56T>C
XM_017016763.1:c.167+56T>C	XP_016872252.1:n.167+56T>C
XM_017016764.1:c.103+56T>C	XP_016872253.1:n.103+56T>C
NM_001227.5:c.110+56T>C MANE Select	NP_001218.1:n.110+56T>C
NM_001320911.2:c.103+56T>C	NP_001307840.1:n.103+56T>C
NM_033338.6:c.209+56T>C	NP_203124.1:n.209+56T>C
NM_033339.5:c.110+56T>C	NP_203125.1:n.110+56T>C
NM_033340.4:c.110+56T>C	NP_203126.1:n.110+56T>C
NM_001267056.2:c.110+56T>C	NP_001253985.1:n.110+56T>C