Canonical Allele Identifier: CA96877033
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs566454478
gnomAD v2: 4-55948023-A-G
gnomAD v3: 4-55081856-A-G
gnomAD v4: 4-55081856-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55081856A>G , CM000666.2:g.55081856A>G GRCh38
NC_000004.11:g.55948023A>G , CM000666.1:g.55948023A>G GRCh37
NC_000004.10:g.55642780A>G NCBI36
NG_012004.1:g.48740T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3848+100T>C MANE Select ENSP00000263923.4:n.3848+100T>C
ENST00000647068.1:n.3861+100T>C
ENST00000263923.4:c.3848+100T>C ENSP00000263923.4:n.3848+100T>C
NM_002253.2:c.3848+100T>C NP_002244.1:n.3848+100T>C
NM_002253.3:c.3848+100T>C NP_002244.1:n.3848+100T>C
NM_002253.4:c.3848+100T>C MANE Select NP_002244.1:n.3848+100T>C