Canonical Allele Identifier: CA15158853
Gene: ITGAV HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.186656533C>A , CM000664.2:g.186656533C>A GRCh38
NC_000002.11:g.187521260C>A , CM000664.1:g.187521260C>A GRCh37
NC_000002.10:g.187229505C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696906.1:c.1719+132C>A ENSP00000512967.1:n.1719+132C>A
ENST00000696907.1:c.1434+132C>A ENSP00000512968.1:n.1434+132C>A
ENST00000696908.1:c.*1129+132C>A ENSP00000512969.1:n.*1129+132C>A
ENST00000696909.1:c.1542+132C>A ENSP00000512970.1:n.1542+132C>A
ENST00000696910.1:c.1719+132C>A ENSP00000512971.1:n.1719+132C>A
ENST00000696911.1:c.1719+132C>A ENSP00000512972.1:n.1719+132C>A
ENST00000696912.1:c.1611+132C>A ENSP00000512973.1:n.1611+132C>A
ENST00000696913.1:c.1719+132C>A ENSP00000512974.1:n.1719+132C>A
ENST00000696914.1:c.*1271+132C>A ENSP00000512975.1:n.*1271+132C>A
ENST00000696917.1:n.2228+132C>A
ENST00000696918.1:n.1180+132C>A
ENST00000696936.1:n.1989+132C>A
ENST00000696937.1:c.1719+132C>A ENSP00000512982.1:n.1719+132C>A
ENST00000261023.8:c.1719+132C>A MANE Select ENSP00000261023.3:n.1719+132C>A
ENST00000261023.7:c.1719+132C>A ENSP00000261023.3:n.1719+132C>A
ENST00000374907.7:c.1611+132C>A ENSP00000364042.3:n.1611+132C>A
ENST00000433736.6:c.1581+132C>A ENSP00000404291.2:n.1581+132C>A
NM_001144999.2:c.1581+132C>A NP_001138471.1:n.1581+132C>A
NM_001145000.2:c.1611+132C>A NP_001138472.1:n.1611+132C>A
NM_002210.4:c.1719+132C>A NP_002201.1:n.1719+132C>A
XM_006712513.2:c.1278+132C>A XP_006712576.1:n.1278+132C>A
NM_002210.5:c.1719+132C>A MANE Select NP_002201.2:n.1719+132C>A
NM_001145000.3:c.1611+132C>A NP_001138472.2:n.1611+132C>A
NM_001144999.3:c.1581+132C>A NP_001138471.2:n.1581+132C>A