Canonical Allele Identifier: CA15507058

Gene: MDFIC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.114989231G>A , CM000669.2:g.114989231G>A	GRCh38
NC_000007.13:g.114629285G>A , CM000669.1:g.114629285G>A	GRCh37
NC_000007.12:g.114416521G>A	NCBI36
NG_029463.1:g.72077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393486.6:c.493+9450G>A MANE Select	ENSP00000377126.1:n.493+9450G>A
ENST00000257724.7:c.820+9450G>A	ENSP00000257724.3:n.820+9450G>A
ENST00000393486.5:c.493+9450G>A	ENSP00000377126.1:n.493+9450G>A
ENST00000431629.5:c.463+9450G>A	ENSP00000416668.1:n.463+9450G>A
ENST00000498196.1:c.328+9450G>A	ENSP00000418337.1:n.328+9450G>A
ENST00000614186.4:c.820+9450G>A	ENSP00000484656.1:n.820+9450G>A
NM_001166345.1:c.493+9450G>A	NP_001159817.1:n.493+9450G>A
NM_199072.4:c.820+9450G>A	NP_951038.1:n.820+9450G>A
NM_001166345.2:c.493+9450G>A	NP_001159817.1:n.493+9450G>A
NM_001166345.3:c.493+9450G>A MANE Select	NP_001159817.1:n.493+9450G>A
NM_199072.5:c.820+9450G>A	NP_951038.1:n.820+9450G>A