Canonical Allele Identifier: CA251510
Gene: FECH HGNC NCBI

Linked Data

ClinVar Variation Id: 552
ClinVar RCV Id: RCV000000582
dbSNP Id: rs786205245

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57554259C>T , CM000680.2:g.57554259C>T GRCh38
NC_000018.9:g.55221491C>T , CM000680.1:g.55221491C>T GRCh37
NC_000018.8:g.53372489C>T NCBI36
NG_008175.1:g.37479G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682485.1:n.1253G>A
ENST00000262093.11:c.1077+1G>A MANE Select ENSP00000262093.6:n.1077+1G>A
ENST00000382873.8:c.861+1G>A ENSP00000372326.4:n.861+1G>A
ENST00000651787.1:n.1183+1G>A
ENST00000652755.1:c.1095+1G>A ENSP00000498358.1:n.1095+1G>A
ENST00000262093.9:c.1077+1G>A ENSP00000262093.5:n.1077+1G>A
ENST00000382873.7:c.1095+1G>A ENSP00000372326.3:n.1095+1G>A
ENST00000585494.5:c.*804+1G>A ENSP00000465243.1:n.*804+1G>A
ENST00000591977.5:n.344+1G>A
ENST00000592699.5:c.979G>A
NM_000140.3:c.1077+1G>A NP_000131.2:n.1077+1G>A
NM_001012515.2:c.1095+1G>A NP_001012533.1:n.1095+1G>A
XM_011525881.1:c.996+1G>A XP_011524183.1:n.996+1G>A
XM_011525882.1:c.861+1G>A XP_011524184.1:n.861+1G>A
NM_000140.4:c.1077+1G>A NP_000131.2:n.1077+1G>A
NM_001012515.3:c.1095+1G>A NP_001012533.1:n.1095+1G>A
XM_011525882.2:c.861+1G>A XP_011524184.1:n.861+1G>A
XM_017025614.2:c.978+1G>A XP_016881103.1:n.978+1G>A
NM_000140.5:c.1077+1G>A MANE Select NP_000131.2:n.1077+1G>A
NM_001012515.4:c.1095+1G>A NP_001012533.1:n.1095+1G>A
NM_001371094.1:c.978+1G>A NP_001358023.1:n.978+1G>A
NM_001371095.1:c.861+1G>A NP_001358024.1:n.861+1G>A
NM_001374778.1:c.1077+1G>A NP_001361707.1:n.1077+1G>A