Canonical Allele Identifier: CA10651102

Gene: FECH

Linked Data

• ClinVar Variation Id: 327374
• ClinVar RCV Id: RCV000283642
• dbSNP Id: rs886053978
• gnomAD v2: 18-55215431-C-T
• gnomAD v3: 18-57548199-C-T
• gnomAD v4: 18-57548199-C-T
• MyVariant Identifiers: chr18:g.55215431C>T (hg19) ; chr18:g.57548199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57548199C>T , CM000680.2:g.57548199C>T	GRCh38
NC_000018.9:g.55215431C>T , CM000680.1:g.55215431C>T	GRCh37
NC_000018.8:g.53366429C>T	NCBI36
NG_008175.1:g.43539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.*2513G>A MANE Select	ENSP00000262093.6:n.*2513G>A
ENST00000652755.1:c.*2513G>A	ENSP00000498358.1:n.*2513G>A
NM_000140.3:c.*2513G>A	NP_000131.2:n.*2513G>A
NM_001012515.2:c.*2513G>A	NP_001012533.1:n.*2513G>A
NM_000140.4:c.*2513G>A	NP_000131.2:n.*2513G>A
NM_001012515.3:c.*2513G>A	NP_001012533.1:n.*2513G>A
NM_000140.5:c.*2513G>A MANE Select	NP_000131.2:n.*2513G>A
NM_001012515.4:c.*2513G>A	NP_001012533.1:n.*2513G>A
NM_001371094.1:c.*2513G>A	NP_001358023.1:n.*2513G>A
NM_001371095.1:c.*2513G>A	NP_001358024.1:n.*2513G>A
NM_001374778.1:c.*2513G>A	NP_001361707.1:n.*2513G>A