Canonical Allele Identifier: CA488179248

Gene: DLK1

Linked Data

• gnomAD v4: 14-100734320-C-T
• MyVariant Identifiers: chr14:g.101200657C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100734320C>T , CM000676.2:g.100734320C>T	GRCh38
NC_000014.8:g.101200657C>T , CM000676.1:g.101200657C>T	GRCh37
NC_000014.7:g.100270410C>T	NCBI36
NG_016863.2:g.12456C>T
NG_016863.3:g.12456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341267.9:c.576C>T MANE Select	ENSP00000340292.4:p.Phe192=
ENST00000331224.10:c.576C>T	ENSP00000331081.6:p.Phe192=
ENST00000341267.8:c.576C>T	ENSP00000340292.4:p.Phe192=
NM_003836.5:c.576C>T	NP_003827.3:p.Phe192=
NM_001317172.1:c.576C>T	NP_001304101.1:p.Phe192=
NM_003836.6:c.576C>T	NP_003827.3:p.Phe192=
NM_001317172.2:c.576C>T	NP_001304101.2:p.Phe192=
NM_003836.7:c.576C>T MANE Select	NP_003827.4:p.Phe192=