Canonical Allele Identifier: CA356657333

Gene: KLB

Linked Data

• MyVariant Identifiers: chr4:g.39448444A>T (hg19) ; chr4:g.39446824A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446824A>T , CM000666.2:g.39446824A>T	GRCh38
NC_000004.11:g.39448444A>T , CM000666.1:g.39448444A>T	GRCh37
NC_000004.10:g.39124839A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2098A>T MANE Select	ENSP00000257408.4:p.Ile700Phe
ENST00000257408.4:c.2098A>T	ENSP00000257408.4:p.Ile700Phe
NM_175737.3:c.2098A>T	NP_783864.1:p.Ile700Phe
XM_005262644.1:c.2071A>T	XP_005262701.1:p.Ile691Phe
NM_175737.4:c.2098A>T MANE Select	NP_783864.1:p.Ile700Phe