Canonical Allele Identifier: CA1129276385

Gene: ENG

Linked Data

• dbSNP Id: rs1302421024
• gnomAD v3: 9-127820233-C-G
• gnomAD v4: 9-127820233-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820233C>G , CM000671.2:g.127820233C>G	GRCh38
NC_000009.11:g.130582512C>G , CM000671.1:g.130582512C>G	GRCh37
NC_000009.10:g.129622333C>G	NCBI36
NG_009551.1:g.39536G>C , LRG_589:g.39536G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-196G>C	ENSP00000479015.1:n.589-196G>C
ENST00000373203.9:c.1135-196G>C MANE Select	ENSP00000362299.4:n.1135-196G>C
ENST00000344849.4:c.1135-196G>C	ENSP00000341917.3:n.1135-196G>C
ENST00000373203.8:c.1135-196G>C	ENSP00000362299.4:n.1135-196G>C
ENST00000480266.5:c.589-196G>C	ENSP00000479015.1:n.589-196G>C
ENST00000486329.1:n.103-196G>C
NM_000118.3:c.1135-196G>C , LRG_589t1:c.1135-196G>C	NP_000109.1:n.1135-196G>C
NM_001114753.2:c.1135-196G>C , LRG_589t2:c.1135-196G>C	NP_001108225.1:n.1135-196G>C
NM_001278138.1:c.589-196G>C	NP_001265067.1:n.589-196G>C
NR_136302.1:n.1569-962C>G
NM_001114753.3:c.1135-196G>C MANE Select	NP_001108225.1:n.1135-196G>C
NM_001278138.2:c.589-196G>C	NP_001265067.1:n.589-196G>C