Canonical Allele Identifier: CA15507058
Gene: MDFIC HGNC NCBI
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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
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