Canonical Allele Identifier: CA66959604

Gene: EFHD1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232648465C>G , CM000664.2:g.232648465C>G	GRCh38
NC_000002.11:g.233513175C>G , CM000664.1:g.233513175C>G	GRCh37
NC_000002.10:g.233221419C>G	NCBI36
NG_051251.1:g.47409C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264059.8:c.303-14337C>G MANE Select	ENSP00000264059.3:n.303-14337C>G
ENST00000264059.7:c.303-14337C>G	ENSP00000264059.3:n.303-14337C>G
ENST00000409613.5:c.15-14337C>G	ENSP00000386556.1:n.15-14337C>G
ENST00000409708.5:c.-35+9981C>G	ENSP00000386243.1:n.-35+9981C>G
ENST00000442845.1:c.370+9981C>G
NM_001243252.1:c.15-14337C>G	NP_001230181.1:n.15-14337C>G
NM_001308395.1:c.-35+9981C>G	NP_001295324.1:n.-35+9981C>G
NM_025202.3:c.303-14337C>G	NP_079478.1:n.303-14337C>G
XM_011511924.1:c.-35+9981C>G	XP_011510226.1:n.-35+9981C>G
NM_025202.4:c.303-14337C>G MANE Select	NP_079478.1:n.303-14337C>G
NM_001308395.2:c.-35+9981C>G	NP_001295324.1:n.-35+9981C>G
NM_001243252.2:c.15-14337C>G	NP_001230181.1:n.15-14337C>G