Canonical Allele Identifier: CA10651934

Gene: FECH

Linked Data

• ClinVar Variation Id: 327422
• ClinVar RCV Id: RCV000396305
• dbSNP Id: rs886053996
• gnomAD v3: 18-57550652-A-G
• gnomAD v4: 18-57550652-A-G
• MyVariant Identifiers: chr18:g.55217884A>G (hg19) ; chr18:g.57550652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57550652A>G , CM000680.2:g.57550652A>G	GRCh38
NC_000018.9:g.55217884A>G , CM000680.1:g.55217884A>G	GRCh37
NC_000018.8:g.53368882A>G	NCBI36
NG_008175.1:g.41086T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262093.11:c.*60T>C MANE Select	ENSP00000262093.6:n.*60T>C
ENST00000382873.8:c.*60T>C	ENSP00000372326.4:n.*60T>C
ENST00000651787.1:n.1438T>C
ENST00000652755.1:c.*60T>C	ENSP00000498358.1:n.*60T>C
ENST00000262093.9:c.*60T>C	ENSP00000262093.5:n.*60T>C
ENST00000382873.7:c.*60T>C	ENSP00000372326.3:n.*60T>C
ENST00000585494.5:c.*1059T>C	ENSP00000465243.1:n.*1059T>C
NM_000140.3:c.*60T>C	NP_000131.2:n.*60T>C
NM_001012515.2:c.*60T>C	NP_001012533.1:n.*60T>C
XM_011525881.1:c.*60T>C	XP_011524183.1:n.*60T>C
XM_011525882.1:c.*60T>C	XP_011524184.1:n.*60T>C
NM_000140.4:c.*60T>C	NP_000131.2:n.*60T>C
NM_001012515.3:c.*60T>C	NP_001012533.1:n.*60T>C
XM_011525882.2:c.*60T>C	XP_011524184.1:n.*60T>C
XM_017025614.2:c.*60T>C	XP_016881103.1:n.*60T>C
NM_000140.5:c.*60T>C MANE Select	NP_000131.2:n.*60T>C
NM_001012515.4:c.*60T>C	NP_001012533.1:n.*60T>C
NM_001371094.1:c.*60T>C	NP_001358023.1:n.*60T>C
NM_001371095.1:c.*60T>C	NP_001358024.1:n.*60T>C
NM_001374778.1:c.*60T>C	NP_001361707.1:n.*60T>C