Canonical Allele Identifier: CA347109585
Gene: GKN1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.68978881C>T
GRCh37 chr2:g.69206013C>T
Revel Score:
ENST00000377938 (MANE Select) 0.370
ClinVar Allele:
3251593
ClinVar RCV:
RCV004392940
ClinVar Variation:
3100043
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68978881C>T , CM000664.2:g.68978881C>T GRCh38
NC_000002.11:g.69206013C>T , CM000664.1:g.69206013C>T GRCh37
NC_000002.10:g.69059517C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377938.4:c.215C>T MANE Select ENSP00000367172.3:p.Ala72Val
ENST00000673932.3:c.257C>T ENSP00000501093.2:p.Ala86Val
ENST00000377938.2:c.257C>T ENSP00000367172.2:p.Ala86Val
NM_019617.3:c.257C>T NP_062563.3:p.Ala86Val
NM_019617.4:c.215C>T MANE Select NP_062563.4:p.Ala72Val
Search 100 bp 5'
Search 100 bp 3'