Canonical Allele Identifier: CA8972944

Gene: FECH

Linked Data

• dbSNP Id: rs202192675
• ExAC: 18:55217944 T / G
• gnomAD v2: 18-55217944-T-G
• gnomAD v3: 18-57550712-T-G
• gnomAD v4: 18-57550712-T-G
• MyVariant Identifiers: chr18:g.55217944T>G (hg19) ; chr18:g.57550712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550712T>G , CM000680.2:g.57550712T>G	GRCh38
NC_000018.9:g.55217944T>G , CM000680.1:g.55217944T>G	GRCh37
NC_000018.8:g.53368942T>G	NCBI36
NG_008175.1:g.41026A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262093.11:c.1272A>C MANE Select	ENSP00000262093.6:p.Ter424Cys
ENST00000382873.8:c.1056A>C	ENSP00000372326.4:p.Ter352Cys
ENST00000651787.1:n.1378A>C
ENST00000652755.1:c.1290A>C	ENSP00000498358.1:p.Ter430Cys
ENST00000262093.9:c.1272A>C	ENSP00000262093.5:p.Ter424Cys
ENST00000382873.7:c.1290A>C	ENSP00000372326.3:p.Ter430Cys
ENST00000585494.5:c.*999A>C	ENSP00000465243.1:n.*999A>C
NM_000140.3:c.1272A>C	NP_000131.2:p.Ter424Cys
NM_001012515.2:c.1290A>C	NP_001012533.1:p.Ter430Cys
XM_011525881.1:c.1191A>C	XP_011524183.1:p.Ter397Cys
XM_011525882.1:c.1056A>C	XP_011524184.1:p.Ter352Cys
NM_000140.4:c.1272A>C	NP_000131.2:p.Ter424Cys
NM_001012515.3:c.1290A>C	NP_001012533.1:p.Ter430Cys
XM_011525882.2:c.1056A>C	XP_011524184.1:p.Ter352Cys
XM_017025614.2:c.1173A>C	XP_016881103.1:p.Ter391Cys
NM_000140.5:c.1272A>C MANE Select	NP_000131.2:p.Ter424Cys
NM_001012515.4:c.1290A>C	NP_001012533.1:p.Ter430Cys
NM_001371094.1:c.1173A>C	NP_001358023.1:p.Ter391Cys
NM_001371095.1:c.1056A>C	NP_001358024.1:p.Ter352Cys
NM_001374778.1:c.1212A>C	NP_001361707.1:p.Ter404Cys