Canonical Allele Identifier: CA2836612

Linked Data

ClinVar Variation Id: 349207
dbSNP Id: rs375960614
gnomAD v2: 4-5809925-C-T
gnomAD v3: 4-5808198-C-T
gnomAD v4: 4-5808198-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808198C>T , CM000666.2:g.5808198C>T GRCh38
NC_000004.11:g.5809925C>T , CM000666.1:g.5809925C>T GRCh37
NC_000004.10:g.5860826C>T NCBI36
NG_008843.1:g.102002C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2562-3C>T (EVC) MANE Select ENSP00000264956.6:n.2562-3C>T
ENST00000264956.10:c.2562-3C>T (EVC) ENSP00000264956.6:n.2562-3C>T
ENST00000506216.5:n.1647+17296G>A (CRMP1)
NM_001306090.1:c.2562-3C>T (EVC) NP_001293019.1:n.2562-3C>T
NM_153717.2:c.2562-3C>T (EVC) NP_714928.1:n.2562-3C>T
XM_006713865.2:c.2562-3C>T (EVC) XP_006713928.1:n.2562-3C>T
XM_006713866.2:c.2562-3C>T (EVC) XP_006713929.1:n.2562-3C>T
XR_427473.2:n.2752-3C>T (EVC)
XR_427475.2:n.2752-3C>T (EVC)
XR_427476.2:n.2752-3C>T (EVC)
XR_924920.1:n.2752-3C>T (EVC)
XR_924921.1:n.2752-3C>T (EVC)
XR_924922.1:n.2752-3C>T (EVC)
XR_924923.1:n.2752-3C>T (EVC)
XR_924924.1:n.2752-3C>T (EVC)
XR_924925.1:n.2752-3C>T (EVC)
XR_924926.1:n.2752-3C>T (EVC)
XR_924927.1:n.2752-3C>T (EVC)
XM_006713865.3:c.2562-3C>T (EVC) XP_006713928.1:n.2562-3C>T
XM_006713866.3:c.2562-3C>T (EVC) XP_006713929.1:n.2562-3C>T
XR_001741164.1:n.2742-3C>T (EVC)
XR_001741165.1:n.2742-3C>T (EVC)
XR_001741166.1:n.2742-3C>T (EVC)
XR_001741167.1:n.2742-3C>T (EVC)
XR_001741168.1:n.2742-3C>T (EVC)
XR_001741169.2:n.2606-3C>T (EVC)
XR_001741170.1:n.2827-3C>T (EVC)
XR_001741171.1:n.2047-3C>T (EVC)
XR_427473.3:n.2742-3C>T (EVC)
XR_427475.3:n.2742-3C>T (EVC)
XR_427476.3:n.2742-3C>T (EVC)
XR_924920.2:n.2742-3C>T (EVC)
XR_924921.2:n.2742-3C>T (EVC)
XR_924922.2:n.2742-3C>T (EVC)
XR_924924.2:n.2742-3C>T (EVC)
XR_924925.2:n.2742-3C>T (EVC)
XR_924926.2:n.2742-3C>T (EVC)
NM_153717.3:c.2562-3C>T (EVC) MANE Select NP_714928.1:n.2562-3C>T
NM_001306090.2:c.2562-3C>T (EVC) NP_001293019.1:n.2562-3C>T