Canonical Allele Identifier: CA630051264

Gene: FECH

Linked Data

• dbSNP Id: rs1254165240
• gnomAD v2: 18-55222027-TA-T
• gnomAD v3: 18-57554795-TA-T
• gnomAD v4: 18-57554795-TA-T
• MyVariant Identifiers: chr18:g.55222028del (hg19) ; chr18:g.57554796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554798del , CM000680.2:g.57554798del	GRCh38
NC_000018.9:g.55222030del , CM000680.1:g.55222030del	GRCh37
NC_000018.8:g.53373028del	NCBI36
NG_008175.1:g.36942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.813+49del	ENSP00000466263.1:n.813+49del
ENST00000682485.1:n.1087+49del
ENST00000262093.11:c.912+49del MANE Select	ENSP00000262093.6:n.912+49del
ENST00000382873.8:c.696+49del	ENSP00000372326.4:n.696+49del
ENST00000651787.1:n.1018+49del
ENST00000651812.1:n.509+49del
ENST00000652755.1:c.930+49del	ENSP00000498358.1:n.930+49del
ENST00000262093.9:c.912+49del	ENSP00000262093.5:n.912+49del
ENST00000382873.7:c.930+49del	ENSP00000372326.3:n.930+49del
ENST00000585494.5:c.*639+49del	ENSP00000465243.1:n.*639+49del
ENST00000591977.5:c.179+49del
ENST00000592699.5:c.813+49del	ENSP00000466263.1:n.813+49del
NM_000140.3:c.912+49del	NP_000131.2:n.912+49del
NM_001012515.2:c.930+49del	NP_001012533.1:n.930+49del
XM_011525881.1:c.831+49del	XP_011524183.1:n.831+49del
XM_011525882.1:c.696+49del	XP_011524184.1:n.696+49del
NM_000140.4:c.912+49del	NP_000131.2:n.912+49del
NM_001012515.3:c.930+49del	NP_001012533.1:n.930+49del
XM_011525882.2:c.696+49del	XP_011524184.1:n.696+49del
XM_017025614.2:c.813+49del	XP_016881103.1:n.813+49del
NM_000140.5:c.912+49del MANE Select	NP_000131.2:n.912+49del
NM_001012515.4:c.930+49del	NP_001012533.1:n.930+49del
NM_001371094.1:c.813+49del	NP_001358023.1:n.813+49del
NM_001371095.1:c.696+49del	NP_001358024.1:n.696+49del
NM_001374778.1:c.912+49del	NP_001361707.1:n.912+49del