Canonical Allele Identifier: CA338567869
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1188160137
gnomAD v3: 1-15445691-C-T
gnomAD v4: 1-15445691-C-T
COSMIC: COSM3475818
MyVariant Identifiers: chr1:g.15772186C>T (hg19) chr1:g.15445691C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445691C>T , CM000663.2:g.15445691C>T GRCh38
NC_000001.10:g.15772186C>T , CM000663.1:g.15772186C>T GRCh37
NC_000001.9:g.15644773C>T NCBI36
NG_009253.1:g.12249C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.734C>T MANE Select ENSP00000365116.4:p.Thr245Ile
ENST00000375943.6:c.*188C>T ENSP00000365110.2:n.*188C>T
ENST00000375949.4:c.734C>T ENSP00000365116.4:p.Thr245Ile
ENST00000483406.1:n.498C>T
NM_007272.2:c.734C>T NP_009203.2:p.Thr245Ile
XM_011540550.1:c.588C>T XP_011538852.1:p.His196=
NM_007272.3:c.734C>T MANE Select NP_009203.2:p.Thr245Ile
Search 100 bp 5'
Search 100 bp 3'