Canonical Allele Identifier: CA7615202
Gene: CILP HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.65197350T>C
GRCh37 chr15:g.65489688T>C
Revel Score:
ENST00000261883 (MANE Select) 0.045
gnomAD v2:
15:65489688 T / C
gnomAD v3:
15:65197350 T / C
gnomAD v4:
chr15-65197350-T-C
Joint Max Group AF 0.99840832 (NFE)
Genomes Max Group AF 0.99352668 (NFE)
Exomes Max Group AF 0.99836847 (NFE)
ClinVar RCV:
RCV003979533
ClinVar Variation:
3058903
dbSNP:
2679117
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65197350T>C , CM000677.2:g.65197350T>C GRCh38
NC_000015.9:g.65489688T>C , CM000677.1:g.65489688T>C GRCh37
NC_000015.8:g.63276741T>C NCBI36
NG_012214.1:g.19153A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261883.6:c.2936A>G MANE Select ENSP00000261883.4:p.Gln979Arg
ENST00000261883.5:c.2936A>G ENSP00000261883.4:p.Gln979Arg
NM_003613.3:c.2936A>G NP_003604.3:p.Gln979Arg
XM_017022678.2:c.3017A>G XP_016878167.1:p.Gln1006Arg
XM_017022679.1:c.2864A>G XP_016878168.1:p.Gln955Arg
NM_003613.4:c.2936A>G MANE Select NP_003604.4:p.Gln979Arg
Search 100 bp 5'
Search 100 bp 3'