Canonical Allele Identifier: CA136296231

Gene: H2BC4 HFE H2BC3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26097156T>C , CM000668.2:g.26097156T>C	GRCh38
NC_000006.11:g.26097384T>C , CM000668.1:g.26097384T>C	GRCh37
NC_000006.10:g.26205363T>C	NCBI36
NG_008720.2:g.14876T>C , LRG_748:g.14876T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000410.4:c.*2930T>C (HFE) MANE Select	NP_000401.1:n.*2930T>C
ENST00000357618.10:c.*2930T>C (HFE) MANE Select	ENSP00000417404.1:n.*2930T>C
NM_001384164.1:c.*2745T>C (HFE)	NP_001371093.1:n.*2745T>C
NM_139003.3:c.*2930T>C (HFE)	NP_620572.1:n.*2930T>C
NM_139004.3:c.*2930T>C (HFE)	NP_620573.1:n.*2930T>C
NM_139006.3:c.*2930T>C (HFE)	NP_620575.1:n.*2930T>C
NM_139007.3:c.*2930T>C (HFE)	NP_620576.1:n.*2930T>C
NM_139008.3:c.*2930T>C (HFE)	NP_620577.1:n.*2930T>C
NM_139009.3:c.*2930T>C (HFE)	NP_620578.1:n.*2930T>C
NM_139010.3:c.*2930T>C (HFE)	NP_620579.1:n.*2930T>C
NM_139011.3:c.*2930T>C (HFE)	NP_620580.1:n.*2930T>C
ENST00000357618.9:c.*2930T>C (HFE)	ENSP00000417404.1:n.*2930T>C
ENST00000629531.1:c.132+26617A>G (H2BC3)	ENSP00000486472.1:n.132+26617A>G
ENST00000707188.1:c.391-6122A>G (H2BC4)	ENSP00000516775.1:n.391-6122A>G