Canonical Allele Identifier: CA11751236
Gene: KDR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.55089065T>C
GRCh37 chr4:g.55955232T>C
gnomAD v2:
4:55955232 T / C
gnomAD v3:
4:55089065 T / C
gnomAD v4:
chr4-55089065-T-C
Joint Max Group AF 0.78410786 (EAS)
Genomes Max Group AF 0.78190795 (EAS)
Exomes Max Group AF 0.78190618 (EAS)
dbSNP:
1531289
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55089065T>C , CM000666.2:g.55089065T>C GRCh38
NC_000004.11:g.55955232T>C , CM000666.1:g.55955232T>C GRCh37
NC_000004.10:g.55649989T>C NCBI36
NG_012004.1:g.41531A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3405-92A>G MANE Select ENSP00000263923.4:n.3405-92A>G
ENST00000647068.1:n.3418-92A>G
ENST00000263923.4:c.3405-92A>G ENSP00000263923.4:n.3405-92A>G
NM_002253.2:c.3405-92A>G NP_002244.1:n.3405-92A>G
NM_002253.3:c.3405-92A>G NP_002244.1:n.3405-92A>G
NM_002253.4:c.3405-92A>G MANE Select NP_002244.1:n.3405-92A>G
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