Canonical Allele Identifier: CA356901489
Gene: KDR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.55088939G>C
GRCh37 chr4:g.55955106G>C
Revel Score:
ENST00000263923 (MANE Select) 0.876
gnomAD v2:
4:55955106 G / C
gnomAD v3:
4:55088939 G / C
gnomAD v4:
chr4-55088939-G-C
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55088939G>C , CM000666.2:g.55088939G>C GRCh38
NC_000004.11:g.55955106G>C , CM000666.1:g.55955106G>C GRCh37
NC_000004.10:g.55649863G>C NCBI36
NG_012004.1:g.41657C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263923.5:c.3439C>G MANE Select ENSP00000263923.4:p.Pro1147Ala
ENST00000647068.1:n.3452C>G
ENST00000263923.4:c.3439C>G ENSP00000263923.4:p.Pro1147Ala
NM_002253.2:c.3439C>G NP_002244.1:p.Pro1147Ala
NM_002253.3:c.3439C>G NP_002244.1:p.Pro1147Ala
NM_002253.4:c.3439C>G MANE Select NP_002244.1:p.Pro1147Ala
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