Canonical Allele Identifier: CA489409837

Gene: EMC4

Linked Data

• dbSNP Id: rs1274821430
• MyVariant Identifiers: chr15:g.34520641T>C (hg19) ; chr15:g.34228440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228440T>C , CM000677.2:g.34228440T>C	GRCh38
NC_000015.9:g.34520641T>C , CM000677.1:g.34520641T>C	GRCh37
NC_000015.8:g.32307933T>C	NCBI36
NG_007951.1:g.114625A>G , LRG_270:g.114625A>G
NG_054746.1:g.8444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.367T>C MANE Select	ENSP00000267750.4:p.Leu123=
ENST00000249209.8:c.355+594T>C	ENSP00000249209.4:n.355+594T>C
ENST00000267750.8:c.367T>C	ENSP00000267750.4:p.Leu123=
ENST00000557879.1:c.*312T>C	ENSP00000473881.1:n.*312T>C
ENST00000558102.1:c.*108+594T>C	ENSP00000453880.1:n.*108+594T>C
ENST00000558205.5:c.*120T>C	ENSP00000454042.1:n.*120T>C
ENST00000559078.5:c.304-526T>C	ENSP00000454052.1:n.304-526T>C
ENST00000559421.1:c.202-1313T>C	ENSP00000452672.1:n.202-1313T>C
ENST00000560911.5:c.*120T>C	ENSP00000453610.1:n.*120T>C
ENST00000560947.1:c.156T>C
ENST00000561246.1:n.1313+616T>C
NM_001286420.1:c.355+594T>C	NP_001273349.1:n.355+594T>C
NM_016454.3:c.367T>C	NP_057538.1:p.Leu123=
NM_001351373.1:c.124T>C	NP_001338302.1:p.Leu42=
NR_147140.1:n.481+594T>C
NM_016454.4:c.367T>C MANE Select	NP_057538.1:p.Leu123=
NM_001286420.2:c.355+594T>C	NP_001273349.1:n.355+594T>C
NM_001351373.2:c.124T>C	NP_001338302.1:p.Leu42=
NR_147140.2:n.462+594T>C