Canonical Allele Identifier: CA11749304

Gene: KLB

Linked Data

• dbSNP Id: rs1542423
• gnomAD v2: 4-39432132-C-T
• gnomAD v3: 4-39430512-C-T
• gnomAD v4: 4-39430512-C-T
• MyVariant Identifiers: chr4:g.39432132C>T (hg19) ; chr4:g.39430512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39430512C>T , CM000666.2:g.39430512C>T	GRCh38
NC_000004.11:g.39432132C>T , CM000666.1:g.39432132C>T	GRCh37
NC_000004.10:g.39108527C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000257408.5:c.826-3698C>T MANE Select	ENSP00000257408.4:n.826-3698C>T
ENST00000257408.4:c.826-3698C>T	ENSP00000257408.4:n.826-3698C>T
NM_175737.3:c.826-3698C>T	NP_783864.1:n.826-3698C>T
XM_005262644.1:c.826-3698C>T	XP_005262701.1:n.826-3698C>T
NM_175737.4:c.826-3698C>T MANE Select	NP_783864.1:n.826-3698C>T