Canonical Allele Identifier: CA389002816

Gene: EFS

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23360281C>A , CM000676.2:g.23360281C>A	GRCh38
NC_000014.8:g.23829490C>A , CM000676.1:g.23829490C>A	GRCh37
NC_000014.7:g.22899330C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005864.4:c.298G>T MANE Select	NP_005855.1:p.Val100Leu
ENST00000216733.8:c.298G>T MANE Select	ENSP00000216733.3:p.Val100Leu
NM_001277174.1:c.19G>T	NP_001264103.1:p.Val7Leu
NM_001277174.2:c.19G>T	NP_001264103.1:p.Val7Leu
NM_001385607.1:c.19G>T	NP_001372536.1:p.Val7Leu
NM_005864.3:c.298G>T	NP_005855.1:p.Val100Leu
NM_032459.2:c.19G>T	NP_115835.1:p.Val7Leu
NM_032459.3:c.19G>T	NP_115835.1:p.Val7Leu
ENST00000216733.7:c.298G>T	ENSP00000216733.3:p.Val100Leu
ENST00000351354.3:c.19G>T	ENSP00000340607.3:p.Val7Leu
ENST00000429593.6:c.19G>T	ENSP00000416684.2:p.Val7Leu
XM_005267256.1:c.298G>T	XP_005267313.1:p.Val100Leu
XM_005267256.2:c.298G>T	XP_005267313.1:p.Val100Leu
XM_024449457.1:c.19G>T	XP_024305225.1:p.Val7Leu