Canonical Allele Identifier: CA300852888

Gene: FECH

Linked Data

• dbSNP Id: rs1041938293
• MyVariant Identifiers: chr18:g.55221316T>G (hg19) ; chr18:g.57554084T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57554084T>G , CM000680.2:g.57554084T>G	GRCh38
NC_000018.9:g.55221316T>G , CM000680.1:g.55221316T>G	GRCh37
NC_000018.8:g.53372314T>G	NCBI36
NG_008175.1:g.37654A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682485.1:n.1428A>C
ENST00000262093.11:c.1077+176A>C MANE Select	ENSP00000262093.6:n.1077+176A>C
ENST00000382873.8:c.861+176A>C	ENSP00000372326.4:n.861+176A>C
ENST00000651787.1:n.1183+176A>C
ENST00000652755.1:c.1095+176A>C	ENSP00000498358.1:n.1095+176A>C
ENST00000262093.9:c.1077+176A>C	ENSP00000262093.5:n.1077+176A>C
ENST00000382873.7:c.1095+176A>C	ENSP00000372326.3:n.1095+176A>C
ENST00000585494.5:c.*804+176A>C	ENSP00000465243.1:n.*804+176A>C
ENST00000591977.5:c.344+176A>C
NM_000140.3:c.1077+176A>C	NP_000131.2:n.1077+176A>C
NM_001012515.2:c.1095+176A>C	NP_001012533.1:n.1095+176A>C
XM_011525881.1:c.996+176A>C	XP_011524183.1:n.996+176A>C
XM_011525882.1:c.861+176A>C	XP_011524184.1:n.861+176A>C
NM_000140.4:c.1077+176A>C	NP_000131.2:n.1077+176A>C
NM_001012515.3:c.1095+176A>C	NP_001012533.1:n.1095+176A>C
XM_011525882.2:c.861+176A>C	XP_011524184.1:n.861+176A>C
XM_017025614.2:c.978+176A>C	XP_016881103.1:n.978+176A>C
NM_000140.5:c.1077+176A>C MANE Select	NP_000131.2:n.1077+176A>C
NM_001012515.4:c.1095+176A>C	NP_001012533.1:n.1095+176A>C
NM_001371094.1:c.978+176A>C	NP_001358023.1:n.978+176A>C
NM_001371095.1:c.861+176A>C	NP_001358024.1:n.861+176A>C
NM_001374778.1:c.1077+176A>C	NP_001361707.1:n.1077+176A>C