Canonical Allele Identifier: CA338567871
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1758550
ClinVar RCV Id: RCV002380346
dbSNP Id: rs200412314
gnomAD v4: 1-15445693-C-G
MyVariant Identifiers: chr1:g.15772188C>G (hg19) chr1:g.15445693C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445693C>G , CM000663.2:g.15445693C>G GRCh38
NC_000001.10:g.15772188C>G , CM000663.1:g.15772188C>G GRCh37
NC_000001.9:g.15644775C>G NCBI36
NG_009253.1:g.12251C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.736C>G MANE Select ENSP00000365116.4:p.Arg246Gly
ENST00000375943.6:c.*190C>G ENSP00000365110.2:n.*190C>G
ENST00000375949.4:c.736C>G ENSP00000365116.4:p.Arg246Gly
ENST00000483406.1:n.500C>G
NM_007272.2:c.736C>G NP_009203.2:p.Arg246Gly
XM_011540550.1:c.590C>G XP_011538852.1:p.Pro197Arg
NM_007272.3:c.736C>G MANE Select NP_009203.2:p.Arg246Gly
Search 100 bp 5'
Search 100 bp 3'