Canonical Allele Identifier: CA4534439
Gene: KEL HGNC NCBI

Linked Data

dbSNP Id: rs568600999
ExAC: 7:142651270 C / A
gnomAD v2: 7-142651270-C-A
gnomAD v3: 7-142954183-C-A
gnomAD v4: 7-142954183-C-A
MyVariant Identifiers: chr7:g.142651270C>A (hg19) chr7:g.142954183C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954183C>A , CM000669.2:g.142954183C>A GRCh38
NC_000007.13:g.142651270C>A , CM000669.1:g.142651270C>A GRCh37
NC_000007.12:g.142361392C>A NCBI36
NG_007492.1:g.13234G>T
NG_007492.2:g.13234G>T
NG_007492.3:g.13234G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.924+1G>T MANE Select ENSP00000347409.2:n.924+1G>T
ENST00000355265.6:c.924+1G>T ENSP00000347409.2:n.924+1G>T
ENST00000479768.6:n.1042+1G>T
NM_000420.2:c.924+1G>T NP_000411.1:n.924+1G>T
XM_005249993.2:c.960+1G>T XP_005250050.1:n.960+1G>T
XM_005249994.3:c.-24+1G>T XP_005250051.1:n.-24+1G>T
NM_000420.3:c.924+1G>T MANE Select NP_000411.1:n.924+1G>T
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