Canonical Allele Identifier: CA10647918

Gene: FECH

Linked Data

• ClinVar Variation Id: 327392
• ClinVar RCV Id: RCV000344788
• dbSNP Id: rs540286571
• gnomAD v2: 18-55216436-C-T
• gnomAD v3: 18-57549204-C-T
• gnomAD v4: 18-57549204-C-T
• MyVariant Identifiers: chr18:g.55216436C>T (hg19) ; chr18:g.57549204C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57549204C>T , CM000680.2:g.57549204C>T	GRCh38
NC_000018.9:g.55216436C>T , CM000680.1:g.55216436C>T	GRCh37
NC_000018.8:g.53367434C>T	NCBI36
NG_008175.1:g.42534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262093.11:c.*1508G>A MANE Select	ENSP00000262093.6:n.*1508G>A
ENST00000652755.1:c.*1508G>A	ENSP00000498358.1:n.*1508G>A
ENST00000262093.9:c.*1508G>A	ENSP00000262093.5:n.*1508G>A
NM_000140.3:c.*1508G>A	NP_000131.2:n.*1508G>A
NM_001012515.2:c.*1508G>A	NP_001012533.1:n.*1508G>A
XM_011525881.1:c.*1508G>A	XP_011524183.1:n.*1508G>A
XM_011525882.1:c.*1508G>A	XP_011524184.1:n.*1508G>A
NM_000140.4:c.*1508G>A	NP_000131.2:n.*1508G>A
NM_001012515.3:c.*1508G>A	NP_001012533.1:n.*1508G>A
XM_011525882.2:c.*1508G>A	XP_011524184.1:n.*1508G>A
NM_000140.5:c.*1508G>A MANE Select	NP_000131.2:n.*1508G>A
NM_001012515.4:c.*1508G>A	NP_001012533.1:n.*1508G>A
NM_001371094.1:c.*1508G>A	NP_001358023.1:n.*1508G>A
NM_001371095.1:c.*1508G>A	NP_001358024.1:n.*1508G>A
NM_001374778.1:c.*1508G>A	NP_001361707.1:n.*1508G>A