Canonical Allele Identifier: CA8973275

Gene: FECH

Linked Data

• dbSNP Id: rs148440941
• ExAC: 18:55240591 C / G
• gnomAD v2: 18-55240591-C-G
• gnomAD v3: 18-57573359-C-G
• gnomAD v4: 18-57573359-C-G
• MyVariant Identifiers: chr18:g.55240591C>G (hg19) ; chr18:g.57573359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57573359C>G , CM000680.2:g.57573359C>G	GRCh38
NC_000018.9:g.55240591C>G , CM000680.1:g.55240591C>G	GRCh37
NC_000018.8:g.53391589C>G	NCBI36
NG_008175.1:g.18379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592699.6:c.201G>C	ENSP00000466263.1:p.Pro67=
ENST00000682485.1:n.313G>C
ENST00000262093.11:c.201G>C MANE Select	ENSP00000262093.6:p.Pro67=
ENST00000382873.8:c.-16G>C	ENSP00000372326.4:n.-16G>C
ENST00000651787.1:n.307G>C
ENST00000652755.1:c.219G>C	ENSP00000498358.1:p.Pro73=
ENST00000262093.9:c.201G>C	ENSP00000262093.5:p.Pro67=
ENST00000382873.7:c.219G>C	ENSP00000372326.3:p.Pro73=
ENST00000585494.5:c.201G>C	ENSP00000465243.1:p.Pro67=
ENST00000585699.1:n.153G>C
ENST00000585747.1:c.201G>C	ENSP00000465717.1:p.Pro67=
ENST00000585878.1:n.253G>C
ENST00000591215.5:c.-16G>C	ENSP00000467461.1:n.-16G>C
ENST00000592111.1:n.202G>C
ENST00000592699.5:c.201G>C	ENSP00000466263.1:p.Pro67=
NM_000140.3:c.201G>C	NP_000131.2:p.Pro67=
NM_001012515.2:c.219G>C	NP_001012533.1:p.Pro73=
XM_011525881.1:c.219G>C	XP_011524183.1:p.Pro73=
XM_011525882.1:c.-16G>C	XP_011524184.1:n.-16G>C
NM_000140.4:c.201G>C	NP_000131.2:p.Pro67=
NM_001012515.3:c.219G>C	NP_001012533.1:p.Pro73=
XM_011525882.2:c.-16G>C	XP_011524184.1:n.-16G>C
XM_017025614.2:c.201G>C	XP_016881103.1:p.Pro67=
NM_000140.5:c.201G>C MANE Select	NP_000131.2:p.Pro67=
NM_001012515.4:c.219G>C	NP_001012533.1:p.Pro73=
NM_001371094.1:c.201G>C	NP_001358023.1:p.Pro67=
NM_001371095.1:c.-16G>C	NP_001358024.1:n.-16G>C
NM_001374778.1:c.201G>C	NP_001361707.1:p.Pro67=