Canonical Allele Identifier: CA13547315

Gene: EHF

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34641414A>G , CM000673.2:g.34641414A>G	GRCh38
NC_000011.9:g.34662961A>G , CM000673.1:g.34662961A>G	GRCh37
NC_000011.8:g.34619537A>G	NCBI36
NG_029177.1:g.25374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257831.8:c.-3-1214A>G MANE Select	ENSP00000257831.3:n.-3-1214A>G
ENST00000257831.7:c.-3-1214A>G	ENSP00000257831.3:n.-3-1214A>G
ENST00000450654.6:c.-3-1214A>G	ENSP00000399733.2:n.-3-1214A>G
ENST00000525253.5:c.-3-1214A>G	ENSP00000434395.1:n.-3-1214A>G
ENST00000527001.5:n.137-594A>G
ENST00000529527.5:c.-3-1214A>G	ENSP00000432905.1:n.-3-1214A>G
ENST00000530286.5:c.-3-1214A>G	ENSP00000433508.1:n.-3-1214A>G
ENST00000531728.5:c.-3-1214A>G	ENSP00000436357.1:n.-3-1214A>G
ENST00000531794.5:c.64-1214A>G	ENSP00000435835.1:n.64-1214A>G
ENST00000533754.5:c.-3-1214A>G	ENSP00000435837.1:n.-3-1214A>G
NM_001206615.1:c.-3-1214A>G	NP_001193544.1:n.-3-1214A>G
NM_001206616.1:c.64-1214A>G	NP_001193545.1:n.64-1214A>G
NM_012153.5:c.-3-1214A>G	NP_036285.2:n.-3-1214A>G
XM_005252857.1:c.64-1214A>G	XP_005252914.1:n.64-1214A>G
XM_005252860.1:c.-3-1214A>G	XP_005252917.1:n.-3-1214A>G
XM_005252861.1:c.64-1214A>G	XP_005252918.1:n.64-1214A>G
XM_005252862.1:c.-3-1214A>G	XP_005252919.1:n.-3-1214A>G
XM_011519983.1:c.7-1214A>G	XP_011518285.1:n.7-1214A>G
XM_011519984.1:c.-161-594A>G	XP_011518286.1:n.-161-594A>G
XM_024448431.1:c.-161-594A>G	XP_024304199.1:n.-161-594A>G
XM_024448432.1:c.-3-1214A>G	XP_024304200.1:n.-3-1214A>G
XM_024448433.1:c.-3-1214A>G	XP_024304201.1:n.-3-1214A>G
NM_001206615.2:c.-3-1214A>G	NP_001193544.1:n.-3-1214A>G
NM_001206616.2:c.64-1214A>G	NP_001193545.1:n.64-1214A>G
NM_012153.6:c.-3-1214A>G MANE Select	NP_036285.2:n.-3-1214A>G
NM_001378041.1:c.-3-1214A>G	NP_001364970.1:n.-3-1214A>G
NM_001378042.1:c.-3-1214A>G	NP_001364971.1:n.-3-1214A>G
NM_001378043.1:c.-161-594A>G	NP_001364972.1:n.-161-594A>G
NM_001378044.1:c.-3-1214A>G	NP_001364973.1:n.-3-1214A>G
NM_001378045.1:c.-3-1214A>G	NP_001364974.1:n.-3-1214A>G
NM_001378047.1:c.-3-1214A>G	NP_001364976.1:n.-3-1214A>G
NM_001378048.1:c.-3-1214A>G	NP_001364977.1:n.-3-1214A>G
NM_001378049.1:c.-3-1214A>G	NP_001364978.1:n.-3-1214A>G
NM_001378050.1:c.-161-594A>G	NP_001364979.1:n.-161-594A>G
NM_001378051.1:c.-161-594A>G	NP_001364980.1:n.-161-594A>G
NM_001378052.1:c.64-1214A>G	NP_001364981.1:n.64-1214A>G
NM_001378053.1:c.7-1214A>G	NP_001364982.1:n.7-1214A>G
NM_001378054.1:c.-3-1214A>G	NP_001364983.1:n.-3-1214A>G
NM_001378055.1:c.7-1214A>G	NP_001364984.1:n.7-1214A>G
NM_001378056.1:c.-164-5025A>G	NP_001364985.1:n.-164-5025A>G
NR_165390.1:n.137-1214A>G
NR_165391.1:n.137-1214A>G