Canonical Allele Identifier: CA354159023

Gene: CASR

Linked Data

• ClinVar Variation Id: 1787684
• ClinVar RCV Id: RCV004061749
• gnomAD v4: 3-122284159-G-C
• MyVariant Identifiers: chr3:g.122003006G>C (hg19) ; chr3:g.122284159G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284159G>C , CM000665.2:g.122284159G>C	GRCh38
NC_000003.11:g.122003006G>C , CM000665.1:g.122003006G>C	GRCh37
NC_000003.10:g.123485696G>C	NCBI36
NG_009058.1:g.105477G>C
NG_009058.2:g.105492G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1974G>C	ENSP00000418685.2:p.Gln658His
ENST00000498619.4:c.2235G>C	ENSP00000420194.1:p.Gln745His
ENST00000638421.1:c.2205G>C	ENSP00000492190.1:p.Gln735His
ENST00000639785.2:c.2205G>C MANE Select	ENSP00000491584.2:p.Gln735His
ENST00000490131.5:c.2205G>C	ENSP00000418685.1:p.Gln735His
ENST00000498619.2:c.2235G>C	ENSP00000420194.1:p.Gln745His
NM_000388.3:c.2205G>C	NP_000379.2:p.Gln735His
NM_001178065.1:c.2235G>C	NP_001171536.1:p.Gln745His
XM_005247836.2:c.2205G>C	XP_005247893.1:p.Gln735His
XM_005247837.2:c.1722G>C	XP_005247894.1:p.Gln574His
XM_006713789.2:c.2205G>C	XP_006713852.1:p.Gln735His
XM_011513237.1:c.2205G>C	XP_011511539.1:p.Gln735His
XM_011513238.1:c.2205G>C	XP_011511540.1:p.Gln735His
XM_011513239.1:c.1617G>C	XP_011511541.1:p.Gln539His
XM_006713789.3:c.2205G>C	XP_006713852.1:p.Gln735His
XM_017007324.1:c.2205G>C	XP_016862813.1:p.Gln735His
XM_017007325.1:c.2205G>C	XP_016862814.1:p.Gln735His
NM_000388.4:c.2205G>C MANE Select	NP_000379.3:p.Gln735His
NM_001178065.2:c.2235G>C	NP_001171536.2:p.Gln745His