Canonical Allele Identifier: CA416207379
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1757377
ClinVar RCV Id: RCV002367523
gnomAD v4: 1-15445671-C-G
MyVariant Identifiers: chr1:g.15772166C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445671C>G , CM000663.2:g.15445671C>G GRCh38
NC_000001.10:g.15772166C>G , CM000663.1:g.15772166C>G GRCh37
NC_000001.9:g.15644753C>G NCBI36
NG_009253.1:g.12229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.714C>G MANE Select ENSP00000365116.4:p.Gly238=
ENST00000375943.6:c.*168C>G ENSP00000365110.2:n.*168C>G
ENST00000375949.4:c.714C>G ENSP00000365116.4:p.Gly238=
ENST00000483406.1:n.478C>G
NM_007272.2:c.714C>G NP_009203.2:p.Gly238=
XM_011540550.1:c.568C>G XP_011538852.1:p.Leu190Val
NM_007272.3:c.714C>G MANE Select NP_009203.2:p.Gly238=
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