Canonical Allele Identifier: CA1062704590
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1004540830
gnomAD v3: 4-55112156-C-G
gnomAD v4: 4-55112156-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55112156C>G , CM000666.2:g.55112156C>G GRCh38
NC_000004.11:g.55978323C>G , CM000666.1:g.55978323C>G GRCh37
NC_000004.10:g.55673080C>G NCBI36
NG_012004.1:g.18440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.976+1148G>C MANE Select ENSP00000263923.4:n.976+1148G>C
ENST00000647068.1:n.989+1148G>C
ENST00000263923.4:c.976+1148G>C ENSP00000263923.4:n.976+1148G>C
ENST00000512566.1:n.976+1148G>C
NM_002253.2:c.976+1148G>C NP_002244.1:n.976+1148G>C
NM_002253.3:c.976+1148G>C NP_002244.1:n.976+1148G>C
NM_002253.4:c.976+1148G>C MANE Select NP_002244.1:n.976+1148G>C
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