Canonical Allele Identifier: CA374989496
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 2849383
ClinVar RCV Id: RCV003758579
dbSNP Id: rs1185363650
gnomAD v2: 9-130616568-T-G
gnomAD v3: 9-127854289-T-G
gnomAD v4: 9-127854289-T-G
MyVariant Identifiers: chr9:g.130616568T>G (hg19) chr9:g.127854289T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854289T>G , CM000671.2:g.127854289T>G GRCh38
NC_000009.11:g.130616568T>G , CM000671.1:g.130616568T>G GRCh37
NC_000009.10:g.129656389T>G NCBI36
NG_009551.1:g.5480A>C , LRG_589:g.5480A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.67A>C MANE Select ENSP00000362299.4:p.Ser23Arg
ENST00000344849.4:c.67A>C ENSP00000341917.3:p.Ser23Arg
ENST00000373203.8:c.67A>C ENSP00000362299.4:p.Ser23Arg
NM_000118.3:c.67A>C , LRG_589t1:c.67A>C NP_000109.1:p.Ser23Arg
NM_001114753.2:c.67A>C , LRG_589t2:c.67A>C NP_001108225.1:p.Ser23Arg
NM_001114753.3:c.67A>C MANE Select NP_001108225.1:p.Ser23Arg
Search 100 bp 5'
Search 100 bp 3'