Canonical Allele Identifier: CA551378020
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs1450299580
gnomAD v2: 4-55962646-G-T
gnomAD v3: 4-55096479-G-T
gnomAD v4: 4-55096479-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55096479G>T , CM000666.2:g.55096479G>T GRCh38
NC_000004.11:g.55962646G>T , CM000666.1:g.55962646G>T GRCh37
NC_000004.10:g.55657403G>T NCBI36
NG_012004.1:g.34117C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.2615-137C>A MANE Select ENSP00000263923.4:n.2615-137C>A
ENST00000647068.1:n.2628-137C>A
ENST00000263923.4:c.2615-137C>A ENSP00000263923.4:n.2615-137C>A
ENST00000509309.1:n.242C>A
NM_002253.2:c.2615-137C>A NP_002244.1:n.2615-137C>A
NM_002253.3:c.2615-137C>A NP_002244.1:n.2615-137C>A
NM_002253.4:c.2615-137C>A MANE Select NP_002244.1:n.2615-137C>A