Canonical Allele Identifier: CA10651086

Gene: FECH

Linked Data

• ClinVar Variation Id: 327320
• ClinVar RCV Id: RCV000310897
• dbSNP Id: rs375220859
• gnomAD v2: 18-55212697-A-G
• gnomAD v3: 18-57545465-A-G
• gnomAD v4: 18-57545465-A-G
• MyVariant Identifiers: chr18:g.55212697A>G (hg19) ; chr18:g.57545465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57545465A>G , CM000680.2:g.57545465A>G	GRCh38
NC_000018.9:g.55212697A>G , CM000680.1:g.55212697A>G	GRCh37
NC_000018.8:g.53363695A>G	NCBI36
NG_008175.1:g.46273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.*5247T>C MANE Select	ENSP00000262093.6:n.*5247T>C
ENST00000652755.1:c.*5247T>C	ENSP00000498358.1:n.*5247T>C
NM_000140.3:c.*5247T>C	NP_000131.2:n.*5247T>C
NM_001012515.2:c.*5247T>C	NP_001012533.1:n.*5247T>C
NM_000140.4:c.*5247T>C	NP_000131.2:n.*5247T>C
NM_001012515.3:c.*5247T>C	NP_001012533.1:n.*5247T>C
NM_000140.5:c.*5247T>C MANE Select	NP_000131.2:n.*5247T>C
NM_001012515.4:c.*5247T>C	NP_001012533.1:n.*5247T>C
NM_001371094.1:c.*5247T>C	NP_001358023.1:n.*5247T>C
NM_001371095.1:c.*5247T>C	NP_001358024.1:n.*5247T>C
NM_001374778.1:c.*5247T>C	NP_001361707.1:n.*5247T>C