Canonical Allele Identifier: CA613467
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 707479
ClinVar RCV Id: RCV000878489
dbSNP Id: rs778166573
ExAC: 1:15772220 C / T
gnomAD v2: 1-15772220-C-T
gnomAD v3: 1-15445725-C-T
gnomAD v4: 1-15445725-C-T
MyVariant Identifiers: chr1:g.15772220C>T (hg19) chr1:g.15445725C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445725C>T , CM000663.2:g.15445725C>T GRCh38
NC_000001.10:g.15772220C>T , CM000663.1:g.15772220C>T GRCh37
NC_000001.9:g.15644807C>T NCBI36
NG_009253.1:g.12283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.768C>T MANE Select ENSP00000365116.4:p.Ser256=
ENST00000375943.6:c.*222C>T ENSP00000365110.2:n.*222C>T
ENST00000375949.4:c.768C>T ENSP00000365116.4:p.Ser256=
ENST00000483406.1:n.532C>T
NM_007272.2:c.768C>T NP_009203.2:p.Ser256=
XM_011540550.1:c.622C>T XP_011538852.1:p.Arg208Cys
NM_007272.3:c.768C>T MANE Select NP_009203.2:p.Ser256=
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