Canonical Allele Identifier: CA220273518

Gene: ELP4

Linked Data

• dbSNP Id: rs189202856
• gnomAD v2: 11-31636493-A-G
• gnomAD v3: 11-31614946-A-G
• gnomAD v4: 11-31614946-A-G
• MyVariant Identifiers: chr11:g.31636493A>G (hg19) ; chr11:g.31614946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31614946A>G , CM000673.2:g.31614946A>G	GRCh38
NC_000011.9:g.31636493A>G , CM000673.1:g.31636493A>G	GRCh37
NC_000011.8:g.31593069A>G	NCBI36
NG_034086.1:g.110218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350638.10:c.656+11039A>G	ENSP00000298937.9:n.656+11039A>G
ENST00000379163.10:c.656+11039A>G	ENSP00000368461.5:n.656+11039A>G
ENST00000638184.1:c.457+11039A>G
ENST00000638347.1:c.653+11039A>G	ENSP00000492567.1:n.653+11039A>G
ENST00000638376.1:c.665+11039A>G
ENST00000638482.1:c.653+11039A>G	ENSP00000491641.1:n.653+11039A>G
ENST00000638917.1:c.653+11039A>G	ENSP00000491989.1:n.653+11039A>G
ENST00000638984.1:c.574+11039A>G	ENSP00000492604.1:n.574+11039A>G
ENST00000639097.1:c.27+11039A>G
ENST00000639570.1:c.653+11039A>G	ENSP00000491971.1:n.653+11039A>G
ENST00000639878.1:c.653+11039A>G	ENSP00000491157.1:n.653+11039A>G
ENST00000640081.1:c.*303+11039A>G	ENSP00000491839.1:n.*303+11039A>G
ENST00000640231.1:c.653+11039A>G	ENSP00000492475.1:n.653+11039A>G
ENST00000640342.1:c.656+11039A>G	ENSP00000492628.1:n.656+11039A>G
ENST00000640533.1:c.656+11039A>G	ENSP00000492770.1:n.656+11039A>G
ENST00000640790.1:c.669+11039A>G
ENST00000640921.1:n.551+11039A>G
ENST00000640954.1:c.653+11039A>G	ENSP00000492376.1:n.653+11039A>G
ENST00000640961.2:c.653+11039A>G MANE Select	ENSP00000492152.1:n.653+11039A>G
ENST00000350638.9:c.653+11039A>G	ENSP00000298937.8:n.653+11039A>G
ENST00000379163.9:c.656+11039A>G	ENSP00000368461.5:n.656+11039A>G
ENST00000395934.2:c.653+11039A>G	ENSP00000379267.2:n.653+11039A>G
ENST00000474374.5:c.*99+11039A>G	ENSP00000432642.1:n.*99+11039A>G
NM_001288725.1:c.656+11039A>G	NP_001275654.1:n.656+11039A>G
NM_001288726.1:c.653+11039A>G	NP_001275655.1:n.653+11039A>G
NM_019040.4:c.653+11039A>G	NP_061913.3:n.653+11039A>G
XM_005252865.2:c.656+11039A>G	XP_005252922.1:n.656+11039A>G
XM_011519986.1:c.656+11039A>G	XP_011518288.1:n.656+11039A>G
XM_011519987.1:c.653+11039A>G	XP_011518289.1:n.653+11039A>G
XM_011519988.1:c.656+11039A>G	XP_011518290.1:n.656+11039A>G
XM_011519989.1:c.656+11039A>G	XP_011518291.1:n.656+11039A>G
NM_019040.5:c.653+11039A>G MANE Select	NP_061913.3:n.653+11039A>G
NM_001288725.2:c.656+11039A>G	NP_001275654.1:n.656+11039A>G
NM_001288726.2:c.653+11039A>G	NP_001275655.1:n.653+11039A>G