Canonical Allele Identifier: CA10651117

Gene: FECH

Linked Data

• ClinVar Variation Id: 327402
• ClinVar RCV Id: RCV000263576
• dbSNP Id: rs868017208
• MyVariant Identifiers: chr18:g.55216771T>A (hg19) ; chr18:g.57549539T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57549539T>A , CM000680.2:g.57549539T>A	GRCh38
NC_000018.9:g.55216771T>A , CM000680.1:g.55216771T>A	GRCh37
NC_000018.8:g.53367769T>A	NCBI36
NG_008175.1:g.42199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.*1173A>T MANE Select	ENSP00000262093.6:n.*1173A>T
ENST00000652755.1:c.*1173A>T	ENSP00000498358.1:n.*1173A>T
ENST00000262093.9:c.*1173A>T	ENSP00000262093.5:n.*1173A>T
ENST00000382873.7:c.*1173A>T	ENSP00000372326.3:n.*1173A>T
NM_000140.3:c.*1173A>T	NP_000131.2:n.*1173A>T
NM_001012515.2:c.*1173A>T	NP_001012533.1:n.*1173A>T
XM_011525881.1:c.*1173A>T	XP_011524183.1:n.*1173A>T
XM_011525882.1:c.*1173A>T	XP_011524184.1:n.*1173A>T
NM_000140.4:c.*1173A>T	NP_000131.2:n.*1173A>T
NM_001012515.3:c.*1173A>T	NP_001012533.1:n.*1173A>T
XM_011525882.2:c.*1173A>T	XP_011524184.1:n.*1173A>T
NM_000140.5:c.*1173A>T MANE Select	NP_000131.2:n.*1173A>T
NM_001012515.4:c.*1173A>T	NP_001012533.1:n.*1173A>T
NM_001371094.1:c.*1173A>T	NP_001358023.1:n.*1173A>T
NM_001371095.1:c.*1173A>T	NP_001358024.1:n.*1173A>T
NM_001374778.1:c.*1173A>T	NP_001361707.1:n.*1173A>T