Canonical Allele Identifier: CA437633485

Gene: KNG1

Linked Data

• dbSNP Id: rs1720828362
• gnomAD v4: 3-186742046-C-T
• MyVariant Identifiers: chr3:g.186459835C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186742046C>T , CM000665.2:g.186742046C>T	GRCh38
NC_000003.11:g.186459835C>T , CM000665.1:g.186459835C>T	GRCh37
NC_000003.10:g.187942529C>T	NCBI36
NG_016009.1:g.29738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287611.8:c.1203+447C>T	ENSP00000287611.2:n.1203+447C>T
ENST00000644859.2:c.1650C>T MANE Select	ENSP00000493985.1:p.Ser550=
ENST00000265023.8:c.1650C>T	ENSP00000265023.4:p.Ser550=
ENST00000287611.6:c.1203+447C>T	ENSP00000287611.2:n.1203+447C>T
ENST00000447445.1:c.1095+447C>T	ENSP00000396025.1:n.1095+447C>T
NM_000893.3:c.1203+447C>T	NP_000884.1:n.1203+447C>T
NM_001102416.2:c.1650C>T	NP_001095886.1:p.Ser550=
NM_001166451.1:c.1095+447C>T	NP_001159923.1:n.1095+447C>T
NM_000893.4:c.1203+447C>T	NP_000884.1:n.1203+447C>T
NM_001102416.3:c.1650C>T MANE Select	NP_001095886.1:p.Ser550=
NM_001166451.2:c.1095+447C>T	NP_001159923.1:n.1095+447C>T