Canonical Allele Identifier: CA613430
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1594155
ClinVar RCV Id: RCV002105488
dbSNP Id: rs368477746
ExAC: 1:15772079 C / T
gnomAD v2: 1-15772079-C-T
gnomAD v3: 1-15445584-C-T
gnomAD v4: 1-15445584-C-T
COSMIC: COSN18052943
MyVariant Identifiers: chr1:g.15772079C>T (hg19) chr1:g.15445584C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445584C>T , CM000663.2:g.15445584C>T GRCh38
NC_000001.10:g.15772079C>T , CM000663.1:g.15772079C>T GRCh37
NC_000001.9:g.15644666C>T NCBI36
NG_009253.1:g.12142C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.640-13C>T MANE Select ENSP00000365116.4:n.640-13C>T
ENST00000375943.6:c.*94-13C>T ENSP00000365110.2:n.*94-13C>T
ENST00000375949.4:c.640-13C>T ENSP00000365116.4:n.640-13C>T
ENST00000483406.1:n.404-13C>T
NM_007272.2:c.640-13C>T NP_009203.2:n.640-13C>T
XM_011540550.1:c.494-13C>T XP_011538852.1:n.494-13C>T
NM_007272.3:c.640-13C>T MANE Select NP_009203.2:n.640-13C>T
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