Canonical Allele Identifier: CA162018049

Gene: CALCR

Linked Data

• dbSNP Id: rs943714641
• gnomAD v2: 7-93056042-C-T
• gnomAD v3: 7-93426730-C-T
• gnomAD v4: 7-93426730-C-T
• MyVariant Identifiers: chr7:g.93056042C>T (hg19) ; chr7:g.93426730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426730C>T , CM000669.2:g.93426730C>T	GRCh38
NC_000007.13:g.93056042C>T , CM000669.1:g.93056042C>T	GRCh37
NC_000007.12:g.92893978C>T	NCBI36
NG_013005.1:g.153001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1192-141G>A MANE Select	ENSP00000389295.1:n.1192-141G>A
ENST00000649521.1:c.1240-141G>A	ENSP00000497687.1:n.1240-141G>A
ENST00000359558.6:c.1294-141G>A	ENSP00000352561.2:n.1294-141G>A
ENST00000360249.8:c.*702-141G>A	ENSP00000353385.5:n.*702-141G>A
ENST00000394441.5:c.1192-141G>A	ENSP00000377959.1:n.1192-141G>A
ENST00000415529.2:c.1242-141G>A	ENSP00000413179.1:n.1242-141G>A
ENST00000421592.5:c.1240-141G>A	ENSP00000399552.1:n.1240-141G>A
ENST00000423724.5:c.1290-141G>A	ENSP00000391369.1:n.1290-141G>A
ENST00000426151.5:c.1192-141G>A	ENSP00000389295.1:n.1192-141G>A
NM_001164737.1:c.1294-141G>A	NP_001158209.1:n.1294-141G>A
NM_001164738.1:c.1192-141G>A	NP_001158210.1:n.1192-141G>A
NM_001742.3:c.1192-141G>A	NP_001733.1:n.1192-141G>A
NM_001164737.2:c.1240-141G>A	NP_001158209.2:n.1240-141G>A
NM_001742.4:c.1192-141G>A MANE Select	NP_001733.1:n.1192-141G>A
NM_001164737.3:c.1240-141G>A	NP_001158209.2:n.1240-141G>A
NM_001164738.2:c.1192-141G>A	NP_001158210.1:n.1192-141G>A