Canonical Allele Identifier: CA358946248

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288567G>C , CM000666.2:g.186288567G>C GRCh38
NC_000004.11:g.187209721G>C , CM000666.1:g.187209721G>C GRCh37
NC_000004.10:g.187446715G>C NCBI36
NG_008051.1:g.27604G>C , LRG_583:g.27604G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1831G>C (F11) MANE Select ENSP00000384957.2:p.Val611Leu
ENST00000264691.4:c.431G>C (F11)
ENST00000264692.8:c.1669G>C (F11) ENSP00000264692.5:p.Val557Leu
ENST00000403665.6:c.1831G>C (F11) ENSP00000384957.2:p.Val611Leu
ENST00000503841.1:n.350G>C (F11)
NM_000128.3:c.1831G>C , LRG_583t1:c.1831G>C (F11) NP_000119.1:p.Val611Leu
NR_033900.1:n.927C>G (F11-AS1)
XM_005262821.2:c.1834G>C (F11) XP_005262878.1:p.Val612Leu
XM_005262822.2:c.1738G>C (F11) XP_005262879.1:p.Val580Leu
XM_005262823.2:c.1564G>C (F11) XP_005262880.1:p.Val522Leu
XM_006714137.1:c.1786G>C (F11) XP_006714200.1:p.Val596Leu
XM_005262821.4:c.1834G>C (F11) XP_005262878.1:p.Val612Leu
XM_005262822.4:c.1738G>C (F11) XP_005262879.1:p.Val580Leu
XM_005262823.4:c.1564G>C (F11) XP_005262880.1:p.Val522Leu
XM_006714137.3:c.1786G>C (F11) XP_006714200.1:p.Val596Leu
NM_000128.4:c.1831G>C (F11) MANE Select NP_000119.1:p.Val611Leu