Canonical Allele Identifier: CA8973277

Gene: FECH

Linked Data

• ClinVar Variation Id: 3094360
• ClinVar RCV Id: RCV004391714
• dbSNP Id: rs768844837
• ExAC: 18:55240592 G / A
• gnomAD v2: 18-55240592-G-A
• gnomAD v4: 18-57573360-G-A
• COSMIC: COSM1641003
• MyVariant Identifiers: chr18:g.55240592G>A (hg19) ; chr18:g.57573360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57573360G>A , CM000680.2:g.57573360G>A	GRCh38
NC_000018.9:g.55240592G>A , CM000680.1:g.55240592G>A	GRCh37
NC_000018.8:g.53391590G>A	NCBI36
NG_008175.1:g.18378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.200C>T	ENSP00000466263.1:p.Pro67Leu
ENST00000682485.1:n.312C>T
ENST00000262093.11:c.200C>T MANE Select	ENSP00000262093.6:p.Pro67Leu
ENST00000382873.8:c.-17C>T	ENSP00000372326.4:n.-17C>T
ENST00000651787.1:n.306C>T
ENST00000652755.1:c.218C>T	ENSP00000498358.1:p.Pro73Leu
ENST00000262093.9:c.200C>T	ENSP00000262093.5:p.Pro67Leu
ENST00000382873.7:c.218C>T	ENSP00000372326.3:p.Pro73Leu
ENST00000585494.5:c.200C>T	ENSP00000465243.1:p.Pro67Leu
ENST00000585699.1:n.152C>T
ENST00000585747.1:c.200C>T	ENSP00000465717.1:p.Pro67Leu
ENST00000585878.1:n.252C>T
ENST00000591215.5:c.-17C>T	ENSP00000467461.1:n.-17C>T
ENST00000592111.1:n.201C>T
ENST00000592699.5:c.200C>T	ENSP00000466263.1:p.Pro67Leu
NM_000140.3:c.200C>T	NP_000131.2:p.Pro67Leu
NM_001012515.2:c.218C>T	NP_001012533.1:p.Pro73Leu
XM_011525881.1:c.218C>T	XP_011524183.1:p.Pro73Leu
XM_011525882.1:c.-17C>T	XP_011524184.1:n.-17C>T
NM_000140.4:c.200C>T	NP_000131.2:p.Pro67Leu
NM_001012515.3:c.218C>T	NP_001012533.1:p.Pro73Leu
XM_011525882.2:c.-17C>T	XP_011524184.1:n.-17C>T
XM_017025614.2:c.200C>T	XP_016881103.1:p.Pro67Leu
NM_000140.5:c.200C>T MANE Select	NP_000131.2:p.Pro67Leu
NM_001012515.4:c.218C>T	NP_001012533.1:p.Pro73Leu
NM_001371094.1:c.200C>T	NP_001358023.1:p.Pro67Leu
NM_001371095.1:c.-17C>T	NP_001358024.1:n.-17C>T
NM_001374778.1:c.200C>T	NP_001361707.1:p.Pro67Leu