Canonical Allele Identifier: CA1062704574
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1720599859
gnomAD v3: 4-55112090-A-G
gnomAD v4: 4-55112090-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55112090A>G , CM000666.2:g.55112090A>G GRCh38
NC_000004.11:g.55978257A>G , CM000666.1:g.55978257A>G GRCh37
NC_000004.10:g.55673014A>G NCBI36
NG_012004.1:g.18506T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263923.5:c.976+1214T>C MANE Select ENSP00000263923.4:n.976+1214T>C
ENST00000647068.1:n.989+1214T>C
ENST00000263923.4:c.976+1214T>C ENSP00000263923.4:n.976+1214T>C
ENST00000512566.1:n.976+1214T>C
NM_002253.2:c.976+1214T>C NP_002244.1:n.976+1214T>C
NM_002253.3:c.976+1214T>C NP_002244.1:n.976+1214T>C
NM_002253.4:c.976+1214T>C MANE Select NP_002244.1:n.976+1214T>C