Canonical Allele Identifier: CA338567729
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1754891
ClinVar RCV Id: RCV002367053
dbSNP Id: rs1307323080
gnomAD v2: 1-15772120-A-G
gnomAD v3: 1-15445625-A-G
gnomAD v4: 1-15445625-A-G
MyVariant Identifiers: chr1:g.15772120A>G (hg19) chr1:g.15445625A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445625A>G , CM000663.2:g.15445625A>G GRCh38
NC_000001.10:g.15772120A>G , CM000663.1:g.15772120A>G GRCh37
NC_000001.9:g.15644707A>G NCBI36
NG_009253.1:g.12183A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.668A>G MANE Select ENSP00000365116.4:p.Gln223Arg
ENST00000375943.6:c.*122A>G ENSP00000365110.2:n.*122A>G
ENST00000375949.4:c.668A>G ENSP00000365116.4:p.Gln223Arg
ENST00000483406.1:n.432A>G
NM_007272.2:c.668A>G NP_009203.2:p.Gln223Arg
XM_011540550.1:c.522A>G XP_011538852.1:p.Pro174=
NM_007272.3:c.668A>G MANE Select NP_009203.2:p.Gln223Arg
Search 100 bp 5'
Search 100 bp 3'