Canonical Allele Identifier: CA368214551

Gene: CALCR

Linked Data

• dbSNP Id: rs1209637138
• gnomAD v2: 7-93055802-C-T
• gnomAD v3: 7-93426490-C-T
• gnomAD v4: 7-93426490-C-T
• MyVariant Identifiers: chr7:g.93055802C>T (hg19) ; chr7:g.93426490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93426490C>T , CM000669.2:g.93426490C>T	GRCh38
NC_000007.13:g.93055802C>T , CM000669.1:g.93055802C>T	GRCh37
NC_000007.12:g.92893738C>T	NCBI36
NG_013005.1:g.153241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426151.7:c.1291G>A MANE Select	ENSP00000389295.1:p.Ala431Thr
ENST00000649521.1:c.1339G>A	ENSP00000497687.1:p.Ala447Thr
ENST00000359558.6:c.1393G>A	ENSP00000352561.2:p.Ala465Thr
ENST00000360249.8:c.*801G>A	ENSP00000353385.5:n.*801G>A
ENST00000394441.5:c.1291G>A	ENSP00000377959.1:p.Ala431Thr
ENST00000415529.2:c.1341G>A	ENSP00000413179.1:n.1341G>A
ENST00000421592.5:c.1339G>A	ENSP00000399552.1:p.Ala447Thr
ENST00000423724.5:c.1389G>A	ENSP00000391369.1:n.1389G>A
ENST00000426151.5:c.1291G>A	ENSP00000389295.1:p.Ala431Thr
NM_001164737.1:c.1393G>A	NP_001158209.1:p.Ala465Thr
NM_001164738.1:c.1291G>A	NP_001158210.1:p.Ala431Thr
NM_001742.3:c.1291G>A	NP_001733.1:p.Ala431Thr
NM_001164737.2:c.1339G>A	NP_001158209.2:p.Ala447Thr
NM_001742.4:c.1291G>A MANE Select	NP_001733.1:p.Ala431Thr
NM_001164737.3:c.1339G>A	NP_001158209.2:p.Ala447Thr
NM_001164738.2:c.1291G>A	NP_001158210.1:p.Ala431Thr