Canonical Allele Identifier: CA8694109

Gene: EFCAB3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.62416121C>T , CM000679.2:g.62416121C>T	GRCh38
NC_000017.10:g.60493482C>T , CM000679.1:g.60493482C>T	GRCh37
NC_000017.9:g.57847214C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305286.8:c.1109C>T MANE Select	ENSP00000302649.3:p.Ser370Phe
ENST00000450662.7:c.1265C>T	ENSP00000403932.2:p.Ser422Phe
ENST00000636041.1:n.1494C>T
ENST00000305286.7:c.1109C>T	ENSP00000302649.3:p.Ser370Phe
ENST00000450662.6:c.1265C>T	ENSP00000403932.2:p.Ser422Phe
NM_001144933.1:c.1265C>T	NP_001138405.1:p.Ser422Phe
NM_173503.3:c.1109C>T	NP_775774.1:p.Ser370Phe
XM_011524380.1:c.1109C>T	XP_011522682.1:p.Ser370Phe
XM_011524381.1:c.1109C>T	XP_011522683.1:p.Ser370Phe
XM_011524381.2:c.1175C>T	XP_011522683.2:p.Ser392Phe
NM_173503.4:c.1109C>T MANE Select	NP_775774.1:p.Ser370Phe
NM_001144933.2:c.1265C>T	NP_001138405.1:p.Ser422Phe