Canonical Allele Identifier: CA605087997
Gene: KRT4 HGNC NCBI

Linked Data

dbSNP Id: rs1160522297
gnomAD v2: 12-53203036-G-C
gnomAD v3: 12-52809252-G-C
gnomAD v4: 12-52809252-G-C
MyVariant Identifiers: chr12:g.53203036G>C (hg19) chr12:g.52809252G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52809252G>C , CM000674.2:g.52809252G>C GRCh38
NC_000012.11:g.53203036G>C , CM000674.1:g.53203036G>C GRCh37
NC_000012.10:g.51489303G>C NCBI36
NG_007380.1:g.10300C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551956.2:c.834+131C>G MANE Select ENSP00000448220.1:n.834+131C>G
ENST00000548097.5:c.*346+131C>G ENSP00000449755.1:n.*346+131C>G
ENST00000549295.1:n.399C>G
ENST00000551956.1:c.834+131C>G ENSP00000448220.1:n.834+131C>G
NM_002272.3:c.834+131C>G NP_002263.3:n.834+131C>G
NM_002272.4:c.834+131C>G MANE Select NP_002263.3:n.834+131C>G
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