Canonical Allele Identifier: CA355733655

Gene: KNG1

Linked Data

• gnomAD v4: 3-186742048-T-C
• MyVariant Identifiers: chr3:g.186459837T>C (hg19) ; chr3:g.186742048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186742048T>C , CM000665.2:g.186742048T>C	GRCh38
NC_000003.11:g.186459837T>C , CM000665.1:g.186459837T>C	GRCh37
NC_000003.10:g.187942531T>C	NCBI36
NG_016009.1:g.29740T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287611.8:c.1203+449T>C	ENSP00000287611.2:n.1203+449T>C
ENST00000644859.2:c.1652T>C MANE Select	ENSP00000493985.1:p.Leu551Pro
ENST00000265023.8:c.1652T>C	ENSP00000265023.4:p.Leu551Pro
ENST00000287611.6:c.1203+449T>C	ENSP00000287611.2:n.1203+449T>C
ENST00000447445.1:c.1095+449T>C	ENSP00000396025.1:n.1095+449T>C
NM_000893.3:c.1203+449T>C	NP_000884.1:n.1203+449T>C
NM_001102416.2:c.1652T>C	NP_001095886.1:p.Leu551Pro
NM_001166451.1:c.1095+449T>C	NP_001159923.1:n.1095+449T>C
NM_000893.4:c.1203+449T>C	NP_000884.1:n.1203+449T>C
NM_001102416.3:c.1652T>C MANE Select	NP_001095886.1:p.Leu551Pro
NM_001166451.2:c.1095+449T>C	NP_001159923.1:n.1095+449T>C