Canonical Allele Identifier: CA613447
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 292914
ClinVar RCV Id: RCV000347906
dbSNP Id: rs140993290
ExAC: 1:15772155 G / A
gnomAD v2: 1-15772155-G-A
gnomAD v3: 1-15445660-G-A
gnomAD v4: 1-15445660-G-A
COSMIC: COSM239482
MyVariant Identifiers: chr1:g.15772155G>A (hg19) chr1:g.15445660G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445660G>A , CM000663.2:g.15445660G>A GRCh38
NC_000001.10:g.15772155G>A , CM000663.1:g.15772155G>A GRCh37
NC_000001.9:g.15644742G>A NCBI36
NG_009253.1:g.12218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.703G>A MANE Select ENSP00000365116.4:p.Val235Ile
ENST00000375943.6:c.*157G>A ENSP00000365110.2:n.*157G>A
ENST00000375949.4:c.703G>A ENSP00000365116.4:p.Val235Ile
ENST00000483406.1:n.467G>A
NM_007272.2:c.703G>A NP_009203.2:p.Val235Ile
XM_011540550.1:c.557G>A XP_011538852.1:p.Arg186His
NM_007272.3:c.703G>A MANE Select NP_009203.2:p.Val235Ile
Search 100 bp 5'
Search 100 bp 3'