Canonical Allele Identifier: CA5252828

Gene: ENG

Linked Data

• dbSNP Id: rs369330513
• ExAC: 9:130581975 G / C
• gnomAD v2: 9-130581975-G-C
• gnomAD v3: 9-127819696-G-C
• gnomAD v4: 9-127819696-G-C
• MyVariant Identifiers: chr9:g.130581975G>C (hg19) ; chr9:g.127819696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819696G>C , CM000671.2:g.127819696G>C	GRCh38
NC_000009.11:g.130581975G>C , CM000671.1:g.130581975G>C	GRCh37
NC_000009.10:g.129621796G>C	NCBI36
NG_009551.1:g.40073C>G , LRG_589:g.40073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.727-36C>G	ENSP00000479015.1:n.727-36C>G
ENST00000373203.9:c.1273-36C>G MANE Select	ENSP00000362299.4:n.1273-36C>G
ENST00000344849.4:c.1273-36C>G	ENSP00000341917.3:n.1273-36C>G
ENST00000373203.8:c.1273-36C>G	ENSP00000362299.4:n.1273-36C>G
ENST00000480266.5:c.727-36C>G	ENSP00000479015.1:n.727-36C>G
ENST00000486329.1:n.241-36C>G
NM_000118.3:c.1273-36C>G , LRG_589t1:c.1273-36C>G	NP_000109.1:n.1273-36C>G
NM_001114753.2:c.1273-36C>G , LRG_589t2:c.1273-36C>G	NP_001108225.1:n.1273-36C>G
NM_001278138.1:c.727-36C>G	NP_001265067.1:n.727-36C>G
NR_136302.1:n.1568+985G>C
NM_001114753.3:c.1273-36C>G MANE Select	NP_001108225.1:n.1273-36C>G
NM_001278138.2:c.727-36C>G	NP_001265067.1:n.727-36C>G