Canonical Allele Identifier: CA576315022

Gene: CALCR

Linked Data

• dbSNP Id: rs1375672674
• gnomAD v2: 7-93055439-A-G
• gnomAD v3: 7-93426127-A-G
• gnomAD v4: 7-93426127-A-G
• MyVariant Identifiers: chr7:g.93055439A>G (hg19) ; chr7:g.93426127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426127A>G , CM000669.2:g.93426127A>G	GRCh38
NC_000007.13:g.93055439A>G , CM000669.1:g.93055439A>G	GRCh37
NC_000007.12:g.92893375A>G	NCBI36
NG_013005.1:g.153604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.*229T>C MANE Select	ENSP00000389295.1:n.*229T>C
ENST00000649521.1:c.*229T>C	ENSP00000497687.1:n.*229T>C
ENST00000359558.6:c.*229T>C	ENSP00000352561.2:n.*229T>C
ENST00000421592.5:c.*229T>C	ENSP00000399552.1:n.*229T>C
NM_001164737.1:c.*229T>C	NP_001158209.1:n.*229T>C
NM_001164738.1:c.*229T>C	NP_001158210.1:n.*229T>C
NM_001742.3:c.*229T>C	NP_001733.1:n.*229T>C
NM_001164737.2:c.*229T>C	NP_001158209.2:n.*229T>C
NM_001742.4:c.*229T>C MANE Select	NP_001733.1:n.*229T>C
NM_001164737.3:c.*229T>C	NP_001158209.2:n.*229T>C
NM_001164738.2:c.*229T>C	NP_001158210.1:n.*229T>C