Canonical Allele Identifier: CA162017892

Gene: CALCR

Linked Data

• dbSNP Id: rs763740748
• gnomAD v4: 7-93426457-T-C
• MyVariant Identifiers: chr7:g.93055769T>C (hg19) ; chr7:g.93426457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426457T>C , CM000669.2:g.93426457T>C	GRCh38
NC_000007.13:g.93055769T>C , CM000669.1:g.93055769T>C	GRCh37
NC_000007.12:g.92893705T>C	NCBI36
NG_013005.1:g.153274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1324A>G MANE Select	ENSP00000389295.1:p.Ile442Val
ENST00000649521.1:c.1372A>G	ENSP00000497687.1:p.Ile458Val
ENST00000359558.6:c.1426A>G	ENSP00000352561.2:p.Ile476Val
ENST00000360249.8:c.*834A>G	ENSP00000353385.5:n.*834A>G
ENST00000394441.5:c.1324A>G	ENSP00000377959.1:p.Ile442Val
ENST00000415529.2:c.1374A>G	ENSP00000413179.1:n.1374A>G
ENST00000421592.5:c.1372A>G	ENSP00000399552.1:p.Ile458Val
ENST00000423724.5:c.1422A>G	ENSP00000391369.1:n.1422A>G
ENST00000426151.5:c.1324A>G	ENSP00000389295.1:p.Ile442Val
NM_001164737.1:c.1426A>G	NP_001158209.1:p.Ile476Val
NM_001164738.1:c.1324A>G	NP_001158210.1:p.Ile442Val
NM_001742.3:c.1324A>G	NP_001733.1:p.Ile442Val
NM_001164737.2:c.1372A>G	NP_001158209.2:p.Ile458Val
NM_001742.4:c.1324A>G MANE Select	NP_001733.1:p.Ile442Val
NM_001164737.3:c.1372A>G	NP_001158209.2:p.Ile458Val
NM_001164738.2:c.1324A>G	NP_001158210.1:p.Ile442Val