Canonical Allele Identifier: CA7463703

Gene: EMC4

Linked Data

• dbSNP Id: rs764542827
• ExAC: 15:34520579 G / A
• gnomAD v2: 15-34520579-G-A
• gnomAD v3: 15-34228378-G-A
• gnomAD v4: 15-34228378-G-A
• MyVariant Identifiers: chr15:g.34520579G>A (hg19) ; chr15:g.34228378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228378G>A , CM000677.2:g.34228378G>A	GRCh38
NC_000015.9:g.34520579G>A , CM000677.1:g.34520579G>A	GRCh37
NC_000015.8:g.32307871G>A	NCBI36
NG_007951.1:g.114687C>T , LRG_270:g.114687C>T
NG_054746.1:g.8382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.356-51G>A MANE Select	ENSP00000267750.4:n.356-51G>A
ENST00000249209.8:c.355+532G>A	ENSP00000249209.4:n.355+532G>A
ENST00000267750.8:c.356-51G>A	ENSP00000267750.4:n.356-51G>A
ENST00000557879.1:c.*250G>A	ENSP00000473881.1:n.*250G>A
ENST00000558102.1:c.*108+532G>A	ENSP00000453880.1:n.*108+532G>A
ENST00000558205.5:c.*109-51G>A	ENSP00000454042.1:n.*109-51G>A
ENST00000559078.5:c.303+584G>A	ENSP00000454052.1:n.303+584G>A
ENST00000559421.1:c.202-1375G>A	ENSP00000452672.1:n.202-1375G>A
ENST00000560911.5:c.*109-51G>A	ENSP00000453610.1:n.*109-51G>A
ENST00000560947.1:c.153-59G>A
ENST00000561246.1:n.1313+554G>A
NM_001286420.1:c.355+532G>A	NP_001273349.1:n.355+532G>A
NM_016454.3:c.356-51G>A	NP_057538.1:n.356-51G>A
NM_001351373.1:c.113-51G>A	NP_001338302.1:n.113-51G>A
NR_147140.1:n.481+532G>A
NM_016454.4:c.356-51G>A MANE Select	NP_057538.1:n.356-51G>A
NM_001286420.2:c.355+532G>A	NP_001273349.1:n.355+532G>A
NM_001351373.2:c.113-51G>A	NP_001338302.1:n.113-51G>A
NR_147140.2:n.462+532G>A