Canonical Allele Identifier: CA712270809

Gene: EMC4

Linked Data

• dbSNP Id: rs1348060877
• gnomAD v4: 15-34228214-A-G
• MyVariant Identifiers: chr15:g.34520415A>G (hg19) ; chr15:g.34228214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34228214A>G , CM000677.2:g.34228214A>G	GRCh38
NC_000015.9:g.34520415A>G , CM000677.1:g.34520415A>G	GRCh37
NC_000015.8:g.32307707A>G	NCBI36
NG_007951.1:g.114851T>C , LRG_270:g.114851T>C
NG_054746.1:g.8218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267750.9:c.356-215A>G MANE Select	ENSP00000267750.4:n.356-215A>G
ENST00000249209.8:c.355+368A>G	ENSP00000249209.4:n.355+368A>G
ENST00000267750.8:c.356-215A>G	ENSP00000267750.4:n.356-215A>G
ENST00000557879.1:c.*86A>G	ENSP00000473881.1:n.*86A>G
ENST00000558102.1:c.*108+368A>G	ENSP00000453880.1:n.*108+368A>G
ENST00000558205.5:c.*109-215A>G	ENSP00000454042.1:n.*109-215A>G
ENST00000559078.5:c.303+420A>G	ENSP00000454052.1:n.303+420A>G
ENST00000559421.1:c.202-1539A>G	ENSP00000452672.1:n.202-1539A>G
ENST00000560911.5:c.*109-215A>G	ENSP00000453610.1:n.*109-215A>G
ENST00000560947.1:c.153-223A>G
ENST00000561246.1:n.1313+390A>G
NM_001286420.1:c.355+368A>G	NP_001273349.1:n.355+368A>G
NM_016454.3:c.356-215A>G	NP_057538.1:n.356-215A>G
NM_001351373.1:c.113-215A>G	NP_001338302.1:n.113-215A>G
NR_147140.1:n.481+368A>G
NM_016454.4:c.356-215A>G MANE Select	NP_057538.1:n.356-215A>G
NM_001286420.2:c.355+368A>G	NP_001273349.1:n.355+368A>G
NM_001351373.2:c.113-215A>G	NP_001338302.1:n.113-215A>G
NR_147140.2:n.462+368A>G