Canonical Allele Identifier: CA2923990
Gene: KDR HGNC NCBI

Linked Data

dbSNP Id: rs748462654
gnomAD v2: 4-55948115-A-T
gnomAD v3: 4-55081948-A-T
gnomAD v4: 4-55081948-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55081948A>T , CM000666.2:g.55081948A>T GRCh38
NC_000004.11:g.55948115A>T , CM000666.1:g.55948115A>T GRCh37
NC_000004.10:g.55642872A>T NCBI36
NG_012004.1:g.48648T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3848+8T>A MANE Select ENSP00000263923.4:n.3848+8T>A
ENST00000647068.1:n.3861+8T>A
ENST00000263923.4:c.3848+8T>A ENSP00000263923.4:n.3848+8T>A
NM_002253.2:c.3848+8T>A NP_002244.1:n.3848+8T>A
NM_002253.3:c.3848+8T>A NP_002244.1:n.3848+8T>A
NM_002253.4:c.3848+8T>A MANE Select NP_002244.1:n.3848+8T>A