Canonical Allele Identifier: CA394304690

Gene: GFER

Linked Data

• COSMIC: COSM1749453
• MyVariant Identifiers: chr16:g.2036007G>T (hg19) ; chr16:g.1986006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1986006G>T , CM000678.2:g.1986006G>T	GRCh38
NC_000016.9:g.2036007G>T , CM000678.1:g.2036007G>T	GRCh37
NC_000016.8:g.1976008G>T	NCBI36
NG_016288.1:g.6858G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567719.2:c.371G>T	ENSP00000455885.1:p.Trp124Leu
ENST00000248114.7:c.596G>T MANE Select	ENSP00000248114.6:p.Trp199Leu
ENST00000248114.6:c.596G>T	ENSP00000248114.6:p.Trp199Leu
ENST00000565658.1:n.753G>T
ENST00000567719.1:c.371G>T	ENSP00000455885.1:p.Trp124Leu
ENST00000569451.1:c.*69G>T	ENSP00000456432.1:n.*69G>T
NM_005262.2:c.596G>T	NP_005253.3:p.Trp199Leu
NM_005262.3:c.596G>T MANE Select	NP_005253.3:p.Trp199Leu