Canonical Allele Identifier: CA15898128
Gene: EFCAB13 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.47347749G>A
GRCh37 chr17:g.45425115G>A
gnomAD v2:
17:45425115 G / A
gnomAD v3:
17:47347749 G / A
gnomAD v4:
chr17-47347749-G-A
Joint Max Group AF 0.48743002 (NFE)
Genomes Max Group AF 0.48946635 (NFE)
Exomes Max Group AF 0.48697957 (NFE)
dbSNP:
7206971
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Genomic Alleles

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

Transcript Alleles

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