Canonical Allele Identifier: CA598387965

Gene: ELP4

Linked Data

• dbSNP Id: rs981881244
• gnomAD v2: 11-31678998-C-T
• gnomAD v3: 11-31657450-C-T
• gnomAD v4: 11-31657450-C-T
• MyVariant Identifiers: chr11:g.31678998C>T (hg19) ; chr11:g.31657450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31657450C>T , CM000673.2:g.31657450C>T	GRCh38
NC_000011.9:g.31678998C>T , CM000673.1:g.31678998C>T	GRCh37
NC_000011.8:g.31635574C>T	NCBI36
NG_034086.1:g.152722C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350638.10:c.1146+7229C>T	ENSP00000298937.9:n.1146+7229C>T
ENST00000379163.10:c.1146+7229C>T	ENSP00000368461.5:n.1146+7229C>T
ENST00000638184.1:c.947+7229C>T
ENST00000638317.1:c.41+7229C>T
ENST00000638347.1:c.1143+7229C>T	ENSP00000492567.1:n.1143+7229C>T
ENST00000638482.1:c.1144-5076C>T	ENSP00000491641.1:n.1144-5076C>T
ENST00000638828.1:n.4316+7229C>T
ENST00000638917.1:c.*526+7229C>T	ENSP00000491989.1:n.*526+7229C>T
ENST00000638984.1:c.1064+7229C>T	ENSP00000492604.1:n.1064+7229C>T
ENST00000639097.1:c.517+7229C>T
ENST00000639182.1:c.112+7229C>T
ENST00000639878.1:c.1143+7229C>T	ENSP00000491157.1:n.1143+7229C>T
ENST00000640081.1:c.*793+7229C>T	ENSP00000491839.1:n.*793+7229C>T
ENST00000640231.1:c.1143+7229C>T	ENSP00000492475.1:n.1143+7229C>T
ENST00000640342.1:c.1146+7229C>T	ENSP00000492628.1:n.1146+7229C>T
ENST00000640533.1:c.1147-5076C>T	ENSP00000492770.1:n.1147-5076C>T
ENST00000640790.1:c.1159+7229C>T
ENST00000640954.1:c.1143+7229C>T	ENSP00000492376.1:n.1143+7229C>T
ENST00000640961.2:c.1143+7229C>T MANE Select	ENSP00000492152.1:n.1143+7229C>T
ENST00000350638.9:c.1143+7229C>T	ENSP00000298937.8:n.1143+7229C>T
ENST00000379163.9:c.1146+7229C>T	ENSP00000368461.5:n.1146+7229C>T
ENST00000395934.2:c.1143+7229C>T	ENSP00000379267.2:n.1143+7229C>T
NM_001288725.1:c.1146+7229C>T	NP_001275654.1:n.1146+7229C>T
NM_001288726.1:c.1143+7229C>T	NP_001275655.1:n.1143+7229C>T
NM_019040.4:c.1143+7229C>T	NP_061913.3:n.1143+7229C>T
XM_005252865.2:c.1146+7229C>T	XP_005252922.1:n.1146+7229C>T
XM_011519986.1:c.1146+7229C>T	XP_011518288.1:n.1146+7229C>T
XM_011519987.1:c.1143+7229C>T	XP_011518289.1:n.1143+7229C>T
XM_011519988.1:c.1147-5076C>T	XP_011518290.1:n.1147-5076C>T
XM_011519989.1:c.1146+7229C>T	XP_011518291.1:n.1146+7229C>T
NM_019040.5:c.1143+7229C>T MANE Select	NP_061913.3:n.1143+7229C>T
NM_001288725.2:c.1146+7229C>T	NP_001275654.1:n.1146+7229C>T
NM_001288726.2:c.1143+7229C>T	NP_001275655.1:n.1143+7229C>T