Canonical Allele Identifier: CA18250621
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1788748
ClinVar RCV Id: RCV002443857
dbSNP Id: rs910219514
gnomAD v4: 1-15440586-A-G
MyVariant Identifiers: chr1:g.15767082A>G (hg19) chr1:g.15440586A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15440586A>G , CM000663.2:g.15440586A>G GRCh38
NC_000001.10:g.15767082A>G , CM000663.1:g.15767082A>G GRCh37
NC_000001.9:g.15639669A>G NCBI36
NG_009253.1:g.7145A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.226A>G MANE Select ENSP00000365116.4:p.Ile76Val
ENST00000375943.6:c.41-1861A>G ENSP00000365110.2:n.41-1861A>G
ENST00000375949.4:c.226A>G ENSP00000365116.4:p.Ile76Val
ENST00000476813.5:n.53-1861A>G
ENST00000483406.1:n.136A>G
NM_007272.2:c.226A>G NP_009203.2:p.Ile76Val
XM_011540550.1:c.226A>G XP_011538852.1:p.Ile76Val
NM_007272.3:c.226A>G MANE Select NP_009203.2:p.Ile76Val
Search 100 bp 5'
Search 100 bp 3'