Canonical Allele Identifier: CA291252654

Gene: EFCAB13

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47347749G>T , CM000679.2:g.47347749G>T	GRCh38
NC_000017.10:g.45425115G>T , CM000679.1:g.45425115G>T	GRCh37
NC_000017.9:g.42780114G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331493.7:c.518-59G>T MANE Select	ENSP00000332111.2:n.518-59G>T
ENST00000331493.6:c.518-59G>T	ENSP00000332111.2:n.518-59G>T
ENST00000517310.5:c.73+2651G>T	ENSP00000466136.1:n.73+2651G>T
ENST00000517484.5:c.517+2651G>T	ENSP00000430048.1:n.517+2651G>T
ENST00000520776.5:n.651+2651G>T
NM_001195192.1:c.517+2651G>T	NP_001182121.1:n.517+2651G>T
NM_152347.4:c.518-59G>T	NP_689560.3:n.518-59G>T
NM_152347.5:c.518-59G>T MANE Select	NP_689560.3:n.518-59G>T
NM_001195192.2:c.517+2651G>T	NP_001182121.1:n.517+2651G>T