Canonical Allele Identifier: CA375969348
Community Standard Title: NM_012311.4(KIN):c.830C>T (p.Thr277Ile)
Gene: KIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7766072G>A , CM000672.2:g.7766072G>A GRCh38
NC_000010.10:g.7808035G>A , CM000672.1:g.7808035G>A GRCh37
NC_000010.9:g.7848041G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012311.4:c.830C>T MANE Select NP_036443.1:p.Thr277Ile
ENST00000379562.9:c.830C>T MANE Select ENSP00000368881.3:p.Thr277Ile
NM_012311.3:c.830C>T NP_036443.1:p.Thr277Ile
NR_045609.1:n.924C>T
NR_045609.2:n.890C>T
ENST00000379562.8:c.830C>T ENSP00000368881.3:p.Thr277Ile
ENST00000460089.1:n.210C>T
ENST00000463666.5:n.81C>T
ENST00000471320.5:n.288C>T
ENST00000498098.1:c.32C>T ENSP00000473950.1:p.Thr11Ile
XM_006717434.2:c.830C>T XP_006717497.1:p.Thr277Ile
XM_006717434.4:c.830C>T XP_006717497.1:p.Thr277Ile
XM_006717435.2:c.512C>T XP_006717498.1:p.Thr171Ile
XM_006717435.4:c.512C>T XP_006717498.1:p.Thr171Ile
XM_011519427.1:c.830C>T XP_011517729.1:p.Thr277Ile
XM_011519427.2:c.830C>T XP_011517729.1:p.Thr277Ile
XM_017015946.1:c.512C>T XP_016871435.1:p.Thr171Ile
XR_930485.1:n.919C>T
XR_930485.2:n.860C>T