Canonical Allele Identifier: CA019627
Gene: FECH HGNC NCBI

Linked Data

dbSNP Id: rs267606804
gnomAD v4: 18-57550759-G-A
MyVariant Identifiers: chr18:g.55217991G>A (hg19) chr18:g.57550759G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57550759G>A , CM000680.2:g.57550759G>A GRCh38
NC_000018.9:g.55217991G>A , CM000680.1:g.55217991G>A GRCh37
NC_000018.8:g.53368989G>A NCBI36
NG_008175.1:g.40979C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262093.11:c.1225C>T MANE Select ENSP00000262093.6:p.Pro409Ser
ENST00000382873.8:c.1009C>T ENSP00000372326.4:p.Pro337Ser
ENST00000651787.1:n.1331C>T
ENST00000652755.1:c.1243C>T ENSP00000498358.1:p.Pro415Ser
ENST00000262093.9:c.1225C>T ENSP00000262093.5:p.Pro409Ser
ENST00000382873.7:c.1243C>T ENSP00000372326.3:p.Pro415Ser
ENST00000585494.5:c.*952C>T ENSP00000465243.1:n.*952C>T
NM_000140.3:c.1225C>T NP_000131.2:p.Pro409Ser
NM_001012515.2:c.1243C>T NP_001012533.1:p.Pro415Ser
XM_011525881.1:c.1144C>T XP_011524183.1:p.Pro382Ser
XM_011525882.1:c.1009C>T XP_011524184.1:p.Pro337Ser
NM_000140.4:c.1225C>T NP_000131.2:p.Pro409Ser
NM_001012515.3:c.1243C>T NP_001012533.1:p.Pro415Ser
XM_011525882.2:c.1009C>T XP_011524184.1:p.Pro337Ser
XM_017025614.2:c.1126C>T XP_016881103.1:p.Pro376Ser
NM_000140.5:c.1225C>T MANE Select NP_000131.2:p.Pro409Ser
NM_001012515.4:c.1243C>T NP_001012533.1:p.Pro415Ser
NM_001371094.1:c.1126C>T NP_001358023.1:p.Pro376Ser
NM_001371095.1:c.1009C>T NP_001358024.1:p.Pro337Ser
NM_001374778.1:c.1165C>T NP_001361707.1:p.Pro389Ser
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