Canonical Allele Identifier: CA4694327

Gene: ELP3

Linked Data

• ClinVar Variation Id: 2272259
• ClinVar RCV Id: RCV004125976
• dbSNP Id: rs372519814
• ExAC: 8:27995393 T / C
• gnomAD v2: 8-27995393-T-C
• gnomAD v3: 8-28137876-T-C
• gnomAD v4: 8-28137876-T-C
• MyVariant Identifiers: chr8:g.27995393T>C (hg19) ; chr8:g.28137876T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28137876T>C , CM000670.2:g.28137876T>C	GRCh38
NC_000008.10:g.27995393T>C , CM000670.1:g.27995393T>C	GRCh37
NC_000008.9:g.28051312T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697968.1:n.1142T>C
ENST00000256398.13:c.1085T>C MANE Select	ENSP00000256398.8:p.Val362Ala
ENST00000256398.12:c.1085T>C	ENSP00000256398.8:p.Val362Ala
ENST00000380353.8:c.809T>C	ENSP00000369711.4:p.Val270Ala
ENST00000518112.5:c.*808T>C	ENSP00000429465.1:n.*808T>C
ENST00000519261.5:c.*679T>C	ENSP00000428357.1:n.*679T>C
ENST00000520110.5:n.615T>C
ENST00000521015.5:c.1043T>C	ENSP00000428449.1:p.Val348Ala
ENST00000523687.5:c.*744T>C	ENSP00000430253.1:n.*744T>C
ENST00000524103.5:c.869T>C	ENSP00000429180.1:p.Val290Ala
ENST00000537665.2:c.728T>C	ENSP00000445558.1:p.Val243Ala
NM_001284220.1:c.869T>C	NP_001271149.1:p.Val290Ala
NM_001284222.1:c.1043T>C	NP_001271151.1:p.Val348Ala
NM_001284224.1:c.728T>C	NP_001271153.1:p.Val243Ala
NM_001284225.1:c.728T>C	NP_001271154.1:p.Val243Ala
NM_001284226.1:c.809T>C	NP_001271155.1:p.Val270Ala
NM_018091.5:c.1085T>C	NP_060561.3:p.Val362Ala
XM_006716354.1:c.728T>C	XP_006716417.1:p.Val243Ala
XM_006716354.3:c.728T>C	XP_006716417.1:p.Val243Ala
XM_017013604.2:c.1085T>C	XP_016869093.1:p.Val362Ala
XM_024447184.1:c.1043T>C	XP_024302952.1:p.Val348Ala
XM_024447185.1:c.869T>C	XP_024302953.1:p.Val290Ala
NM_018091.6:c.1085T>C MANE Select	NP_060561.3:p.Val362Ala
NM_001284220.2:c.869T>C	NP_001271149.1:p.Val290Ala
NM_001284222.2:c.1043T>C	NP_001271151.1:p.Val348Ala
NM_001284224.2:c.728T>C	NP_001271153.1:p.Val243Ala
NM_001284225.2:c.728T>C	NP_001271154.1:p.Val243Ala
NM_001284226.2:c.809T>C	NP_001271155.1:p.Val270Ala