Canonical Allele Identifier: CA442641338

Linked Data

dbSNP Id: rs2126790993
MyVariant Identifiers: chr4:g.187209612T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288458T>C , CM000666.2:g.186288458T>C GRCh38
NC_000004.11:g.187209612T>C , CM000666.1:g.187209612T>C GRCh37
NC_000004.10:g.187446606T>C NCBI36
NG_008051.1:g.27495T>C , LRG_583:g.27495T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1722T>C (F11) MANE Select ENSP00000384957.2:p.Asp574=
ENST00000264691.4:c.322T>C (F11)
ENST00000264692.8:c.1560T>C (F11) ENSP00000264692.5:p.Asp520=
ENST00000403665.6:c.1722T>C (F11) ENSP00000384957.2:p.Asp574=
ENST00000503841.1:n.241T>C (F11)
NM_000128.3:c.1722T>C , LRG_583t1:c.1722T>C (F11) NP_000119.1:p.Asp574=
NR_033900.1:n.1036A>G (F11-AS1)
XM_005262821.2:c.1725T>C (F11) XP_005262878.1:p.Asp575=
XM_005262822.2:c.1629T>C (F11) XP_005262879.1:p.Asp543=
XM_005262823.2:c.1455T>C (F11) XP_005262880.1:p.Asp485=
XM_006714137.1:c.1677T>C (F11) XP_006714200.1:p.Asp559=
XM_005262821.4:c.1725T>C (F11) XP_005262878.1:p.Asp575=
XM_005262822.4:c.1629T>C (F11) XP_005262879.1:p.Asp543=
XM_005262823.4:c.1455T>C (F11) XP_005262880.1:p.Asp485=
XM_006714137.3:c.1677T>C (F11) XP_006714200.1:p.Asp559=
NM_000128.4:c.1722T>C (F11) MANE Select NP_000119.1:p.Asp574=