Canonical Allele Identifier: CA95700154
Gene: KLB HGNC NCBI

Linked Data

dbSNP Id: rs192075468
gnomAD v2: 4-39432157-A-G
gnomAD v3: 4-39430537-A-G
gnomAD v4: 4-39430537-A-G
MyVariant Identifiers: chr4:g.39432157A>G (hg19) chr4:g.39430537A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39430537A>G , CM000666.2:g.39430537A>G GRCh38
NC_000004.11:g.39432157A>G , CM000666.1:g.39432157A>G GRCh37
NC_000004.10:g.39108552A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257408.5:c.826-3673A>G MANE Select ENSP00000257408.4:n.826-3673A>G
ENST00000257408.4:c.826-3673A>G ENSP00000257408.4:n.826-3673A>G
NM_175737.3:c.826-3673A>G NP_783864.1:n.826-3673A>G
XM_005262644.1:c.826-3673A>G XP_005262701.1:n.826-3673A>G
NM_175737.4:c.826-3673A>G MANE Select NP_783864.1:n.826-3673A>G
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