Canonical Allele Identifier: CA613466
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1404556
ClinVar RCV Id: RCV001901700
dbSNP Id: rs772573958
ExAC: 1:15772219 C / G
gnomAD v2: 1-15772219-C-G
gnomAD v4: 1-15445724-C-G
MyVariant Identifiers: chr1:g.15772219C>G (hg19) chr1:g.15445724C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445724C>G , CM000663.2:g.15445724C>G GRCh38
NC_000001.10:g.15772219C>G , CM000663.1:g.15772219C>G GRCh37
NC_000001.9:g.15644806C>G NCBI36
NG_009253.1:g.12282C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.767C>G MANE Select ENSP00000365116.4:p.Ser256Cys
ENST00000375943.6:c.*221C>G ENSP00000365110.2:n.*221C>G
ENST00000375949.4:c.767C>G ENSP00000365116.4:p.Ser256Cys
ENST00000483406.1:n.531C>G
NM_007272.2:c.767C>G NP_009203.2:p.Ser256Cys
XM_011540550.1:c.621C>G XP_011538852.1:p.Val207=
NM_007272.3:c.767C>G MANE Select NP_009203.2:p.Ser256Cys
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