Canonical Allele Identifier: CA712270833

Gene: EMC4

Linked Data

• dbSNP Id: rs1189697677
• gnomAD v4: 15-34228306-C-T
• MyVariant Identifiers: chr15:g.34520507C>T (hg19) ; chr15:g.34228306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228306C>T , CM000677.2:g.34228306C>T	GRCh38
NC_000015.9:g.34520507C>T , CM000677.1:g.34520507C>T	GRCh37
NC_000015.8:g.32307799C>T	NCBI36
NG_007951.1:g.114759G>A , LRG_270:g.114759G>A
NG_054746.1:g.8310C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267750.9:c.356-123C>T MANE Select	ENSP00000267750.4:n.356-123C>T
ENST00000249209.8:c.355+460C>T	ENSP00000249209.4:n.355+460C>T
ENST00000267750.8:c.356-123C>T	ENSP00000267750.4:n.356-123C>T
ENST00000557879.1:c.*178C>T	ENSP00000473881.1:n.*178C>T
ENST00000558102.1:c.*108+460C>T	ENSP00000453880.1:n.*108+460C>T
ENST00000558205.5:c.*109-123C>T	ENSP00000454042.1:n.*109-123C>T
ENST00000559078.5:c.303+512C>T	ENSP00000454052.1:n.303+512C>T
ENST00000559421.1:c.202-1447C>T	ENSP00000452672.1:n.202-1447C>T
ENST00000560911.5:c.*109-123C>T	ENSP00000453610.1:n.*109-123C>T
ENST00000560947.1:c.153-131C>T
ENST00000561246.1:n.1313+482C>T
NM_001286420.1:c.355+460C>T	NP_001273349.1:n.355+460C>T
NM_016454.3:c.356-123C>T	NP_057538.1:n.356-123C>T
NM_001351373.1:c.113-123C>T	NP_001338302.1:n.113-123C>T
NR_147140.1:n.481+460C>T
NM_016454.4:c.356-123C>T MANE Select	NP_057538.1:n.356-123C>T
NM_001286420.2:c.355+460C>T	NP_001273349.1:n.355+460C>T
NM_001351373.2:c.113-123C>T	NP_001338302.1:n.113-123C>T
NR_147140.2:n.462+460C>T