Canonical Allele Identifier: CA4345294

Gene: CALCR

Linked Data

• dbSNP Id: rs529140021
• ExAC: 7:93055842 C / G
• gnomAD v2: 7-93055842-C-G
• gnomAD v3: 7-93426530-C-G
• gnomAD v4: 7-93426530-C-G
• MyVariant Identifiers: chr7:g.93055842C>G (hg19) ; chr7:g.93426530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426530C>G , CM000669.2:g.93426530C>G	GRCh38
NC_000007.13:g.93055842C>G , CM000669.1:g.93055842C>G	GRCh37
NC_000007.12:g.92893778C>G	NCBI36
NG_013005.1:g.153201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1251G>C MANE Select	ENSP00000389295.1:p.Trp417Cys
ENST00000649521.1:c.1299G>C	ENSP00000497687.1:p.Trp433Cys
ENST00000359558.6:c.1353G>C	ENSP00000352561.2:p.Trp451Cys
ENST00000360249.8:c.*761G>C	ENSP00000353385.5:n.*761G>C
ENST00000394441.5:c.1251G>C	ENSP00000377959.1:p.Trp417Cys
ENST00000415529.2:c.1301G>C	ENSP00000413179.1:n.1301G>C
ENST00000421592.5:c.1299G>C	ENSP00000399552.1:p.Trp433Cys
ENST00000423724.5:c.1349G>C	ENSP00000391369.1:n.1349G>C
ENST00000426151.5:c.1251G>C	ENSP00000389295.1:p.Trp417Cys
NM_001164737.1:c.1353G>C	NP_001158209.1:p.Trp451Cys
NM_001164738.1:c.1251G>C	NP_001158210.1:p.Trp417Cys
NM_001742.3:c.1251G>C	NP_001733.1:p.Trp417Cys
NM_001164737.2:c.1299G>C	NP_001158209.2:p.Trp433Cys
NM_001742.4:c.1251G>C MANE Select	NP_001733.1:p.Trp417Cys
NM_001164737.3:c.1299G>C	NP_001158209.2:p.Trp433Cys
NM_001164738.2:c.1251G>C	NP_001158210.1:p.Trp417Cys