Canonical Allele Identifier: CA613464

Gene: CTRC

Linked Data

• ClinVar Variation Id: 827156
• ClinVar RCV Id: RCV001873412 ; RCV002261253
• dbSNP Id: rs755811899
• ExAC: 1:15772213 G / C
• gnomAD v2: 1-15772213-G-C
• gnomAD v3: 1-15445718-G-C
• gnomAD v4: 1-15445718-G-C
• MyVariant Identifiers: chr1:g.15772213G>C (hg19) ; chr1:g.15445718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445718G>C , CM000663.2:g.15445718G>C	GRCh38
NC_000001.10:g.15772213G>C , CM000663.1:g.15772213G>C	GRCh37
NC_000001.9:g.15644800G>C	NCBI36
NG_009253.1:g.12276G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.761G>C MANE Select	ENSP00000365116.4:p.Arg254Pro
ENST00000375943.6:c.*215G>C	ENSP00000365110.2:n.*215G>C
ENST00000375949.4:c.761G>C	ENSP00000365116.4:p.Arg254Pro
ENST00000483406.1:n.525G>C
NM_007272.2:c.761G>C	NP_009203.2:p.Arg254Pro
XM_011540550.1:c.615G>C	XP_011538852.1:p.Pro205=
NM_007272.3:c.761G>C MANE Select	NP_009203.2:p.Arg254Pro