Canonical Allele Identifier: CA7346513
Gene: DLK1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.100728998A>G
GRCh37 chr14:g.101195335A>G
Revel Score:
ENST00000392848 0.281
ENST00000341267 (MANE Select) 0.281
ENST00000331224 0.281
ENST00000556051 0.281
gnomAD v2:
14:101195335 A / G
gnomAD v3:
14:100728998 A / G
gnomAD v4:
chr14-100728998-A-G
Joint Max Group AF 0.00113736 (NFE)
Genomes Max Group AF 0.00083551 (NFE)
Exomes Max Group AF 0.00114578 (NFE)
ClinVar RCV:
RCV001374439
RCV003394015
ClinVar Variation:
1064522
dbSNP:
147224004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100728998A>G , CM000676.2:g.100728998A>G GRCh38
NC_000014.8:g.101195335A>G , CM000676.1:g.101195335A>G GRCh37
NC_000014.7:g.100265088A>G NCBI36
NG_016863.2:g.7134A>G
NG_016863.3:g.7134A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341267.9:c.194A>G MANE Select ENSP00000340292.4:p.His65Arg
ENST00000331224.10:c.194A>G ENSP00000331081.6:p.His65Arg
ENST00000341267.8:c.194A>G ENSP00000340292.4:p.His65Arg
ENST00000392848.9:c.194A>G ENSP00000376589.5:p.His65Arg
ENST00000556051.1:c.194A>G ENSP00000450821.1:p.His65Arg
NM_003836.5:c.194A>G NP_003827.3:p.His65Arg
NM_001317172.1:c.194A>G NP_001304101.1:p.His65Arg
NM_003836.6:c.194A>G NP_003827.3:p.His65Arg
NM_001317172.2:c.194A>G NP_001304101.2:p.His65Arg
NM_003836.7:c.194A>G MANE Select NP_003827.4:p.His65Arg
Search 100 bp 5'
Search 100 bp 3'