Canonical Allele Identifier: CA364458234
Gene: EFHC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52479768C>T , CM000668.2:g.52479768C>T GRCh38
NC_000006.11:g.52344566C>T , CM000668.1:g.52344566C>T GRCh37
NC_000006.10:g.52452525C>T NCBI36
NG_016760.1:g.64573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371068.11:c.1621C>T MANE Select ENSP00000360107.4:p.Pro541Ser
ENST00000480623.6:c.1621C>T ENSP00000434498.2:p.Pro541Ser
ENST00000635760.1:c.1297C>T ENSP00000489765.1:p.Pro433Ser
ENST00000635812.1:c.*922C>T ENSP00000490859.1:n.*922C>T
ENST00000635866.1:c.*1490C>T ENSP00000489866.1:n.*1490C>T
ENST00000635911.1:n.3139C>T
ENST00000635984.1:c.1297C>T ENSP00000489921.1:p.Pro433Ser
ENST00000635996.1:c.1621C>T ENSP00000490256.1:p.Pro541Ser
ENST00000636107.1:c.1621C>T ENSP00000489680.1:p.Pro541Ser
ENST00000636311.1:n.1515C>T
ENST00000636343.1:c.1287C>T
ENST00000636379.1:c.1333C>T ENSP00000490622.1:p.Pro445Ser
ENST00000636398.1:c.1321C>T ENSP00000489654.1:n.1321C>T
ENST00000636489.1:c.1564C>T ENSP00000489998.1:p.Pro522Ser
ENST00000636616.1:n.1182C>T
ENST00000636702.1:c.1591C>T ENSP00000489623.1:p.Pro531Ser
ENST00000636954.1:c.1564C>T ENSP00000489966.1:p.Pro522Ser
ENST00000637089.1:c.1621C>T ENSP00000489854.1:p.Pro541Ser
ENST00000637121.1:n.1423C>T
ENST00000637263.1:c.1621C>T ENSP00000489700.1:p.Pro541Ser
ENST00000637340.1:n.3546C>T
ENST00000637353.1:c.1621C>T ENSP00000490441.1:p.Pro541Ser
ENST00000637602.1:c.*1322C>T ENSP00000490074.1:n.*1322C>T
ENST00000637849.1:n.1685C>T
ENST00000637892.1:n.1825C>T
ENST00000371068.9:c.1621C>T ENSP00000360107.4:p.Pro541Ser
ENST00000480623.5:c.*2041C>T ENSP00000434498.1:n.*2041C>T
ENST00000538167.2:c.1564C>T ENSP00000444521.1:p.Pro522Ser
NM_001172420.1:c.1564C>T NP_001165891.1:p.Pro522Ser
NM_018100.3:c.1621C>T NP_060570.2:p.Pro541Ser
NR_033327.1:n.3093C>T
NM_018100.4:c.1621C>T MANE Select NP_060570.2:p.Pro541Ser
NM_001172420.2:c.1564C>T NP_001165891.1:p.Pro522Ser
NR_033327.2:n.2947C>T